Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 27358 single nucleotide variant NM_001715.2(BLK):c.211G>A (p.Ala71Thr) 55758736 Human Phenotype Ontology:HP:0004904,MedGen:CN004347;MedGen:C3150618,OMIM:613375;MedGen:CN169374 8 11405576 11405576 G A 27358 single nucleotide variant NM_001715.2(BLK):c.211G>A (p.Ala71Thr) 55758736 Human Phenotype Ontology:HP:0004904,MedGen:CN004347;MedGen:C3150618,OMIM:613375;MedGen:CN169374 8 11548067 11548067 G A 27359 single nucleotide variant NM_001715.2(BLK):c.*338T>G 1042695 Human Phenotype Ontology:HP:0004904,MedGen:CN004347;MedGen:C3150618,OMIM:613375 8 11564446 11564446 T G 27359 single nucleotide variant NM_001715.2(BLK):c.*338T>G 1042695 Human Phenotype Ontology:HP:0004904,MedGen:CN004347;MedGen:C3150618,OMIM:613375 8 11459364 11459364 T G 27359 single nucleotide variant NM_001715.2(BLK):c.*338T>G 1042695 Human Phenotype Ontology:HP:0004904,MedGen:CN004347;MedGen:C3150618,OMIM:613375 8 11421955 11421955 T G 27360 single nucleotide variant NC_000008.11:g.11573132C>T 61199332 MedGen:C3150618,OMIM:613375 8 11468050 11468050 C T 27360 single nucleotide variant NC_000008.11:g.11573132C>T 61199332 MedGen:C3150618,OMIM:613375 8 11430641 11430641 C T 27360 single nucleotide variant NC_000008.11:g.11573132C>T 61199332 MedGen:C3150618,OMIM:613375 8 11573132 11573132 C T 27361 single nucleotide variant NC_000008.11:g.11474238G>A 886037620 MedGen:C3150618,OMIM:613375 8 11331747 11331747 G A 27361 single nucleotide variant NC_000008.11:g.11474238G>A 886037620 MedGen:C3150618,OMIM:613375 8 11369157 11369157 G A 27361 single nucleotide variant NC_000008.11:g.11474238G>A 886037620 MedGen:C3150618,OMIM:613375 8 11474238 11474238 G A 27362 single nucleotide variant NM_001715.2(BLK):c.*505G>T 886037621 MedGen:C3150618,OMIM:613375 8 11459531 11459531 G T 27362 single nucleotide variant NM_001715.2(BLK):c.*505G>T 886037621 MedGen:C3150618,OMIM:613375 8 11422122 11422122 G T 27362 single nucleotide variant NM_001715.2(BLK):c.*505G>T 886037621 MedGen:C3150618,OMIM:613375 8 11564613 11564613 G T 133973 single nucleotide variant NM_001715.2(BLK):c.139C>G (p.Leu47Val) 202045056 MedGen:CN221809 8 11403576 11403576 C G 133973 single nucleotide variant NM_001715.2(BLK):c.139C>G (p.Leu47Val) 202045056 MedGen:CN221809 8 11546067 11546067 C G 133974 single nucleotide variant NM_001715.2(BLK):c.102C>T (p.Asp34=) 75383960 Human Phenotype Ontology:HP:0004904,MedGen:CN004347;MedGen:CN169374 8 11400835 11400835 C T 133974 single nucleotide variant NM_001715.2(BLK):c.102C>T (p.Asp34=) 75383960 Human Phenotype Ontology:HP:0004904,MedGen:CN004347;MedGen:CN169374 8 11543326 11543326 C T 133975 single nucleotide variant NM_001715.2(BLK):c.258G>A (p.Gln86=) 56185487 Human Phenotype Ontology:HP:0004904,MedGen:CN004347;MedGen:CN169374 8 11405623 11405623 G A 133975 single nucleotide variant NM_001715.2(BLK):c.258G>A (p.Gln86=) 56185487 Human Phenotype Ontology:HP:0004904,MedGen:CN004347;MedGen:CN169374 8 11548114 11548114 G A 133976 single nucleotide variant NM_001715.2(BLK):c.330T>C (p.Ser110=) 3816668 Human Phenotype Ontology:HP:0004904,MedGen:CN004347;MedGen:CN169374 8 11406593 11406593 T C 133976 single nucleotide variant NM_001715.2(BLK):c.330T>C (p.Ser110=) 3816668 Human Phenotype Ontology:HP:0004904,MedGen:CN004347;MedGen:CN169374 8 11549084 11549084 T C 133977 single nucleotide variant NM_001715.2(BLK):c.435C>T (p.Ala145=) 7836533 Human Phenotype Ontology:HP:0004904,MedGen:CN004347;MedGen:CN169374 8 11407734 11407734 C T 133977 single nucleotide variant NM_001715.2(BLK):c.435C>T (p.Ala145=) 7836533 Human Phenotype Ontology:HP:0004904,MedGen:CN004347;MedGen:CN169374 8 11550225 11550225 C T 133978 single nucleotide variant NM_001715.2(BLK):c.843T>C (p.Phe281=) 2306234 Human Phenotype Ontology:HP:0004904,MedGen:CN004347;MedGen:CN169374 8 11414237 11414237 T C 133978 single nucleotide variant NM_001715.2(BLK):c.843T>C (p.Phe281=) 2306234 Human Phenotype Ontology:HP:0004904,MedGen:CN004347;MedGen:CN169374 8 11556728 11556728 T C 154691 copy number gain GRCh38/hg38 8p23.1(chr8:11534277-11562107)x3 -1 - 8 11391786 11419616 na na 154691 copy number gain GRCh38/hg38 8p23.1(chr8:11534277-11562107)x3 -1 - 8 11534277 11562107 na na 154691 copy number gain GRCh38/hg38 8p23.1(chr8:11534277-11562107)x3 -1 - 8 11429195 11457025 na na 161949 copy number gain GRCh38/hg38 8p23.1(chr8:11505173-11526880)x3 -1 - 8 11362682 11384389 na na 161949 copy number gain GRCh38/hg38 8p23.1(chr8:11505173-11526880)x3 -1 - 8 11505173 11526880 na na 161949 copy number gain GRCh38/hg38 8p23.1(chr8:11505173-11526880)x3 -1 - 8 11400091 11421798 na na 207496 single nucleotide variant NM_001715.2(BLK):c.713G>A (p.Arg238Gln) 141865425 Human Phenotype Ontology:HP:0004904,MedGen:CN004347;MedGen:CN169374 8 11412934 11412934 G A 207496 single nucleotide variant NM_001715.2(BLK):c.713G>A (p.Arg238Gln) 141865425 Human Phenotype Ontology:HP:0004904,MedGen:CN004347;MedGen:CN169374 8 11555425 11555425 G A 253009 single nucleotide variant NM_001715.2(BLK):c.39G>A (p.Lys13=) 142129056 MedGen:CN169374 8 11400772 11400772 G A 253009 single nucleotide variant NM_001715.2(BLK):c.39G>A (p.Lys13=) 142129056 MedGen:CN169374 8 11543263 11543263 G A 253010 single nucleotide variant NM_001715.2(BLK):c.116C>T (p.Pro39Leu) 142352008 Human Phenotype Ontology:HP:0004904,MedGen:CN004347;MedGen:CN169374 8 11400849 11400849 C T 253010 single nucleotide variant NM_001715.2(BLK):c.116C>T (p.Pro39Leu) 142352008 Human Phenotype Ontology:HP:0004904,MedGen:CN004347;MedGen:CN169374 8 11543340 11543340 C T 253011 single nucleotide variant NM_001715.2(BLK):c.472+12G>A 145058498 Human Phenotype Ontology:HP:0004904,MedGen:CN004347;MedGen:CN169374 8 11407783 11407783 G A 253011 single nucleotide variant NM_001715.2(BLK):c.472+12G>A 145058498 Human Phenotype Ontology:HP:0004904,MedGen:CN004347;MedGen:CN169374 8 11550274 11550274 G A 253012 single nucleotide variant NM_001715.2(BLK):c.772+16C>T 200129390 MedGen:CN169374 8 11413009 11413009 C T 253012 single nucleotide variant NM_001715.2(BLK):c.772+16C>T 200129390 MedGen:CN169374 8 11555500 11555500 C T 253017 single nucleotide variant NM_001715.2(BLK):c.1302G>A (p.Val434=) 145686279 MedGen:CN169374 8 11420609 11420609 G A 253017 single nucleotide variant NM_001715.2(BLK):c.1302G>A (p.Val434=) 145686279 MedGen:CN169374 8 11563100 11563100 G A 303948 single nucleotide variant NM_001715.2(BLK):c.-530G>A 115316286 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11494063 11494063 G A 303948 single nucleotide variant NM_001715.2(BLK):c.-530G>A 115316286 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11351572 11351572 G A 303950 single nucleotide variant NM_001715.2(BLK):c.-448T>C 148891021 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11494145 11494145 T C 303950 single nucleotide variant NM_001715.2(BLK):c.-448T>C 148891021 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11351654 11351654 T C 303951 single nucleotide variant NM_001715.2(BLK):c.-440G>A 554033678 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11494153 11494153 G A 303951 single nucleotide variant NM_001715.2(BLK):c.-440G>A 554033678 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11351662 11351662 G A 303953 single nucleotide variant NM_001715.2(BLK):c.-203C>T 886062592 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11494390 11494390 C T 303953 single nucleotide variant NM_001715.2(BLK):c.-203C>T 886062592 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11351899 11351899 C T 303954 single nucleotide variant NM_001715.2(BLK):c.-9T>C 886062594 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11494584 11494584 T C 303954 single nucleotide variant NM_001715.2(BLK):c.-9T>C 886062594 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11352093 11352093 T C 303997 single nucleotide variant NM_001715.2(BLK):c.311G>T (p.Arg104Ile) 142298864 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11549065 11549065 G T 303997 single nucleotide variant NM_001715.2(BLK):c.311G>T (p.Arg104Ile) 142298864 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11406574 11406574 G T 304004 single nucleotide variant NM_001715.2(BLK):c.391C>A (p.Arg131=) 73663163 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11407690 11407690 C A 304004 single nucleotide variant NM_001715.2(BLK):c.391C>A (p.Arg131=) 73663163 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11550181 11550181 C A 304006 single nucleotide variant NM_001715.2(BLK):c.879C>T (p.His293=) 142623841 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11556764 11556764 C T 304006 single nucleotide variant NM_001715.2(BLK):c.879C>T (p.His293=) 142623841 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11414273 11414273 C T 304008 single nucleotide variant NM_001715.2(BLK):c.974A>C (p.Lys325Thr) 77401687 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11557983 11557983 A C 304008 single nucleotide variant NM_001715.2(BLK):c.974A>C (p.Lys325Thr) 77401687 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11415492 11415492 A C 304026 single nucleotide variant NM_001715.2(BLK):c.1208C>T (p.Ala403Val) 139210041 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11420515 11420515 C T 304026 single nucleotide variant NM_001715.2(BLK):c.1208C>T (p.Ala403Val) 139210041 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11563006 11563006 C T 304028 single nucleotide variant NM_001715.2(BLK):c.1351G>A (p.Gly451Ser) 199605698 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11421450 11421450 G A 304028 single nucleotide variant NM_001715.2(BLK):c.1351G>A (p.Gly451Ser) 199605698 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11563941 11563941 G A 304030 single nucleotide variant NM_001715.2(BLK):c.*92G>C 14053 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11421709 11421709 G C 304030 single nucleotide variant NM_001715.2(BLK):c.*92G>C 14053 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11564200 11564200 G C 304039 single nucleotide variant NM_001715.2(BLK):c.*176C>T 1042689 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11421793 11421793 C T 304039 single nucleotide variant NM_001715.2(BLK):c.*176C>T 1042689 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11564284 11564284 C T 307485 single nucleotide variant NM_001715.2(BLK):c.-484G>A 761744676 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11494109 11494109 G A 307485 single nucleotide variant NM_001715.2(BLK):c.-484G>A 761744676 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11351618 11351618 G A 307487 single nucleotide variant NM_001715.2(BLK):c.-475A>C 886062589 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11494118 11494118 A C 307487 single nucleotide variant NM_001715.2(BLK):c.-475A>C 886062589 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11351627 11351627 A C 307497 single nucleotide variant NM_001715.2(BLK):c.-375G>A 886062590 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11494218 11494218 G A 307497 single nucleotide variant NM_001715.2(BLK):c.-375G>A 886062590 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11351727 11351727 G A 307498 single nucleotide variant NM_001715.2(BLK):c.-267C>T 886062591 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11494326 11494326 C T 307498 single nucleotide variant NM_001715.2(BLK):c.-267C>T 886062591 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11351835 11351835 C T 307499 single nucleotide variant NM_001715.2(BLK):c.-209C>T 559867785 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11494384 11494384 C T 307499 single nucleotide variant NM_001715.2(BLK):c.-209C>T 559867785 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11351893 11351893 C T 307501 single nucleotide variant NM_001715.2(BLK):c.-165G>T 139110057 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11351937 11351937 G T 307501 single nucleotide variant NM_001715.2(BLK):c.-165G>T 139110057 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11494428 11494428 G T 307512 single nucleotide variant NM_001715.2(BLK):c.-124C>T 886062593 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11494469 11494469 C T 307512 single nucleotide variant NM_001715.2(BLK):c.-124C>T 886062593 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11351978 11351978 C T 307514 single nucleotide variant NM_001715.2(BLK):c.-46A>G 2250788 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11494547 11494547 A G 307514 single nucleotide variant NM_001715.2(BLK):c.-46A>G 2250788 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11352056 11352056 A G 307589 single nucleotide variant NM_001715.2(BLK):c.424A>G (p.Ile142Val) 562247916 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11407723 11407723 A G 307589 single nucleotide variant NM_001715.2(BLK):c.424A>G (p.Ile142Val) 562247916 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11550214 11550214 A G 307591 single nucleotide variant NM_001715.2(BLK):c.617C>G (p.Ser206Cys) 550720173 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11412396 11412396 C G 307591 single nucleotide variant NM_001715.2(BLK):c.617C>G (p.Ser206Cys) 550720173 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11554887 11554887 C G 307596 single nucleotide variant NM_001715.2(BLK):c.639C>T (p.Cys213=) 779263158 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11412860 11412860 C T 307596 single nucleotide variant NM_001715.2(BLK):c.639C>T (p.Cys213=) 779263158 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11555351 11555351 C T 307598 single nucleotide variant NM_001715.2(BLK):c.753A>G (p.Gln251=) 76563369 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11412974 11412974 A G 307598 single nucleotide variant NM_001715.2(BLK):c.753A>G (p.Gln251=) 76563369 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11555465 11555465 A G 307634 single nucleotide variant NM_001715.2(BLK):c.1089G>A (p.Ala363=) 55836779 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11561361 11561361 G A 307634 single nucleotide variant NM_001715.2(BLK):c.1089G>A (p.Ala363=) 55836779 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11418870 11418870 G A 307635 single nucleotide variant NM_001715.2(BLK):c.1349G>A (p.Arg450His) 202162624 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11563939 11563939 G A 307635 single nucleotide variant NM_001715.2(BLK):c.1349G>A (p.Arg450His) 202162624 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11421448 11421448 G A 307636 single nucleotide variant NM_001715.2(BLK):c.*161C>G 886062597 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11421778 11421778 C G 307636 single nucleotide variant NM_001715.2(BLK):c.*161C>G 886062597 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11564269 11564269 C G 307637 deletion NM_001715.2(BLK):c.*182delC 886062598 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11564290 11564290 C - 307637 deletion NM_001715.2(BLK):c.*182delC 886062598 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11421799 11421799 C - 312503 single nucleotide variant NM_001715.2(BLK):c.-531C>T 538706235 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11494062 11494062 C T 312503 single nucleotide variant NM_001715.2(BLK):c.-531C>T 538706235 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11351571 11351571 C T 312521 single nucleotide variant NM_001715.2(BLK):c.-304C>G 151046937 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11494289 11494289 C G 312521 single nucleotide variant NM_001715.2(BLK):c.-304C>G 151046937 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11351798 11351798 C G 312557 single nucleotide variant NM_001715.2(BLK):c.-441C>A 142686759 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11494152 11494152 C A 312557 single nucleotide variant NM_001715.2(BLK):c.-441C>A 142686759 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11351661 11351661 C A 312558 single nucleotide variant NM_001715.2(BLK):c.-190C>T 922483 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11494403 11494403 C T 312558 single nucleotide variant NM_001715.2(BLK):c.-190C>T 922483 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11351912 11351912 C T 312598 single nucleotide variant NM_001715.2(BLK):c.41C>T (p.Pro14Leu) 769734763 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11543265 11543265 C T 312598 single nucleotide variant NM_001715.2(BLK):c.41C>T (p.Pro14Leu) 769734763 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11400774 11400774 C T 312599 single nucleotide variant NM_001715.2(BLK):c.153G>A (p.Pro51=) 746710451 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11546081 11546081 G A 312599 single nucleotide variant NM_001715.2(BLK):c.153G>A (p.Pro51=) 746710451 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11403590 11403590 G A 312601 single nucleotide variant NM_001715.2(BLK):c.571C>A (p.Pro191Thr) 769895420 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11412350 11412350 C A 312601 single nucleotide variant NM_001715.2(BLK):c.571C>A (p.Pro191Thr) 769895420 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11554841 11554841 C A 312634 single nucleotide variant NM_001715.2(BLK):c.711C>T (p.Pro237=) 143699141 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11412932 11412932 C T 312634 single nucleotide variant NM_001715.2(BLK):c.711C>T (p.Pro237=) 143699141 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11555423 11555423 C T 312642 single nucleotide variant NM_001715.2(BLK):c.892C>T (p.Arg298Ter) 745877998 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11556777 11556777 C T 312642 single nucleotide variant NM_001715.2(BLK):c.892C>T (p.Arg298Ter) 745877998 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11414286 11414286 C T 312649 single nucleotide variant NM_001715.2(BLK):c.1057C>T (p.Arg353Cys) 199696853 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11561329 11561329 C T 312649 single nucleotide variant NM_001715.2(BLK):c.1057C>T (p.Arg353Cys) 199696853 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11418838 11418838 C T 312666 single nucleotide variant NM_001715.2(BLK):c.1308C>T (p.Tyr436=) 886062596 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11420615 11420615 C T 312666 single nucleotide variant NM_001715.2(BLK):c.1308C>T (p.Tyr436=) 886062596 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11563106 11563106 C T 312669 single nucleotide variant NM_001715.2(BLK):c.*289G>A 886062599 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11564397 11564397 G A 312669 single nucleotide variant NM_001715.2(BLK):c.*289G>A 886062599 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11421906 11421906 G A 312671 single nucleotide variant NM_001715.2(BLK):c.*324G>A 886062600 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11564432 11564432 G A 312671 single nucleotide variant NM_001715.2(BLK):c.*324G>A 886062600 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11421941 11421941 G A 312713 single nucleotide variant NM_001715.2(BLK):c.177C>G (p.Asp59Glu) 146083915 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11548033 11548033 C G 312713 single nucleotide variant NM_001715.2(BLK):c.177C>G (p.Asp59Glu) 146083915 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11405542 11405542 C G 312714 single nucleotide variant NM_001715.2(BLK):c.187G>A (p.Val63Met) 138972988 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11548043 11548043 G A 312714 single nucleotide variant NM_001715.2(BLK):c.187G>A (p.Val63Met) 138972988 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11405552 11405552 G A 312715 single nucleotide variant NM_001715.2(BLK):c.223C>G (p.Arg75Gly) 149393791 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11548079 11548079 C G 312715 single nucleotide variant NM_001715.2(BLK):c.223C>G (p.Arg75Gly) 149393791 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11405588 11405588 C G 312725 single nucleotide variant NM_001715.2(BLK):c.672C>T (p.Ala224=) 201252364 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11412893 11412893 C T 312725 single nucleotide variant NM_001715.2(BLK):c.672C>T (p.Ala224=) 201252364 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11555384 11555384 C T 312758 single nucleotide variant NM_001715.2(BLK):c.1046C>T (p.Ala349Val) 759976637 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11561318 11561318 C T 312758 single nucleotide variant NM_001715.2(BLK):c.1046C>T (p.Ala349Val) 759976637 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11418827 11418827 C T 312762 single nucleotide variant NM_001715.2(BLK):c.1120T>G (p.Cys374Gly) 886062595 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11561392 11561392 T G 312762 single nucleotide variant NM_001715.2(BLK):c.1120T>G (p.Cys374Gly) 886062595 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11418901 11418901 T G 312774 single nucleotide variant NM_001715.2(BLK):c.*348C>G 564964151 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11564456 11564456 C G 312774 single nucleotide variant NM_001715.2(BLK):c.*348C>G 564964151 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11421965 11421965 C G 312775 single nucleotide variant NM_001715.2(BLK):c.*376C>T 886062601 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11564484 11564484 C T 312775 single nucleotide variant NM_001715.2(BLK):c.*376C>T 886062601 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11421993 11421993 C T 312777 single nucleotide variant NM_001715.2(BLK):c.*428G>A 1042701 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11564536 11564536 G A 312777 single nucleotide variant NM_001715.2(BLK):c.*428G>A 1042701 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11422045 11422045 G A 312780 single nucleotide variant NM_001715.2(BLK):c.*444C>A 376203568 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11564552 11564552 C A 312780 single nucleotide variant NM_001715.2(BLK):c.*444C>A 376203568 Human Phenotype Ontology:HP:0004904,MedGen:CN004347 8 11422061 11422061 C A

Disease associated variation - GWASdb Chr Pos SNP ID(dbSNP 142) Ref Alt Ori SNP ID P-value Drug Name Drug Anno GWAS Trait HPO ID DO ID AA Type Trait or Drug 8 11349576 rs2251056 C A rs2251056 1.50E-10 Kawasaki disease HPOID:0001677 DOID:13378 A nearGene-5 GWASdb_trait 8 11350678 rs2736344 T C rs2736344 3.00E-10 Kawasaki disease HPOID:0001677 DOID:13378 C nearGene-5 GWASdb_trait 8 11350721 rs9694294 C G rs9694294 1.40E-10 Kawasaki disease HPOID:0001677 DOID:13378 C nearGene-5 GWASdb_trait 8 11351019 rs4840568 G A rs4840568 1.20E-10 Kawasaki disease HPOID:0001677 DOID:13378 G nearGene-5 GWASdb_trait 8 11351220 rs1382568 A C,G rs1382568 5.90E-10 Kawasaki disease HPOID:0001677 DOID:13378 A nearGene-5 GWASdb_trait 8 11351912 rs922483 C T rs922483 5.10E-11 Kawasaki disease HPOID:0001677 DOID:13378 C UTR-5 GWASdb_trait 8 11352056 rs2250788 A G rs2250788 6.10E-10 Kawasaki disease HPOID:0001677 DOID:13378 G UTR-5 GWASdb_trait 8 11352485 rs2736345 A G rs2736345 5.20E-10 Kawasaki disease HPOID:0001677 DOID:13378 A intron GWASdb_trait 8 11352541 rs2618476 T C rs2618476 2.00E-08 Systemic lupus erythematosus HPOID:0002725 DOID:9074 T intron GWASdb_trait 8 11352541 rs2618476 T C rs2618476 2.23E-06 Kawasaki disease HPOID:0001677 DOID:13378 T intron GWASdb_trait 8 11352541 rs2618476 T C rs2618476 3.80E-10 Kawasaki disease HPOID:0001677 DOID:13378 T intron GWASdb_trait 8 11353000 rs998683 G A rs998683 1.28E-05 Lymphocyte counts HPOID:0004332|HPOID:0002665 DOID:2841|DOID:1240|DOID:0060058|DOID:614|DOID:1287 C intron GWASdb_trait 8 11353000 rs998683 G A rs998683 8.20E-06 Kawasaki disease HPOID:0001677 DOID:13378 C intron GWASdb_trait 8 11353000 rs998683 G A rs998683 1.20E-10 Kawasaki disease HPOID:0001677 DOID:13378 C intron GWASdb_trait 8 11353052 rs998682 A G rs998682 1.06E-05 Kawasaki disease HPOID:0001677 DOID:13378 T intron GWASdb_trait 8 11353052 rs998682 A G rs998682 6.60E-10 Kawasaki disease HPOID:0001677 DOID:13378 T intron GWASdb_trait 8 11353335 rs1478895 G C rs1478895 1.09E-05 Kawasaki disease HPOID:0001677 DOID:13378 G intron GWASdb_trait 8 11353335 rs1478895 G C rs1478895 7.50E-10 Kawasaki disease HPOID:0001677 DOID:13378 G intron GWASdb_trait 8 11354097 rs2618481 C T rs2618481 1.70E-10 Kawasaki disease HPOID:0001677 DOID:13378 G intron GWASdb_trait 8 11354570 rs2250412 G A rs2250412 1.70E-11 Kawasaki disease HPOID:0001677 DOID:13378 A intron GWASdb_trait 8 11355821 rs2618479 A G rs2618479 1.01E-05 Kawasaki disease HPOID:0001677 DOID:13378 C intron GWASdb_trait 8 11355821 rs2618479 A G rs2618479 3.60E-09 Kawasaki disease HPOID:0001677 DOID:13378 C intron GWASdb_trait 8 11355980 rs1478887 C T rs1478887 3.60E-11 Kawasaki disease HPOID:0001677 DOID:13378 G intron GWASdb_trait 8 11356002 rs2618478 C A rs2618478 2.30E-09 Kawasaki disease HPOID:0001677 DOID:13378 T intron GWASdb_trait 8 11359020 rs2618471 C G rs2618471 1.30E-09 Kawasaki disease HPOID:0001677 DOID:13378 C intron GWASdb_trait 8 11359112 rs2736346 G A rs2736346 5.20E-10 Kawasaki disease HPOID:0001677 DOID:13378 A intron GWASdb_trait 8 11359377 rs2736347 G A rs2736347 4.00E-11 Kawasaki disease HPOID:0001677 DOID:13378 A intron GWASdb_trait 8 11359380 rs2618469 G A rs2618469 9.40E-10 Kawasaki disease HPOID:0001677 DOID:13378 T intron GWASdb_trait 8 11359557 rs2409781 T C rs2409781 8.10E-10 Kawasaki disease HPOID:0001677 DOID:13378 C intron GWASdb_trait 8 11359638 rs1600249 G T rs1600249 5.00E-06 Rheumatoid arthritis HPOID:0001370 DOID:7148 T intron GWASdb_trait 8 11359638 rs1600249 G T rs1600249 1.90E-07 Kawasaki disease HPOID:0001677 DOID:13378 T intron GWASdb_trait 8 11360045 rs1585729 G C rs1585729 1.10E-11 Kawasaki disease HPOID:0001677 DOID:13378 G intron GWASdb_trait 8 11361552 rs2736350 T G rs2736350 1.10E-09 Kawasaki disease HPOID:0001677 DOID:13378 G intron GWASdb_trait 8 11362243 rs2618467 T C rs2618467 2.00E-08 Kawasaki disease HPOID:0001677 DOID:13378 G intron GWASdb_trait 8 11362272 rs10100215 G T rs10100215 1.10E-08 Kawasaki disease HPOID:0001677 DOID:13378 G intron GWASdb_trait 8 11363784 rs2280805 A T rs2280805 4.40E-06 Kawasaki disease HPOID:0001677 DOID:13378 A intron GWASdb_trait 8 11367038 rs2736353 C T rs2736353 4.30E-07 Kawasaki disease HPOID:0001677 DOID:13378 T intron GWASdb_trait 8 11368219 rs2252729 A G rs2252729 1.30E-07 Kawasaki disease HPOID:0001677 DOID:13378 G intron GWASdb_trait 8 11368731 rs2736354 T C rs2736354 8.19E-05 Kawasaki disease HPOID:0001677 DOID:13378 C intron GWASdb_trait 8 11368731 rs2736354 T C rs2736354 7.30E-07 Kawasaki disease HPOID:0001677 DOID:13378 C intron GWASdb_trait 8 11368731 rs2736354 T C rs2736354 7.35E-05 Smoking cessation HPOID:0000707 DOID:0050742 C intron GWASdb_trait 8 11368731 rs569648905 TC T rs2736354 8.19E-05 Kawasaki disease HPOID:0001677 DOID:13378 C intron GWASdb_trait 8 11368731 rs569648905 TC T rs2736354 7.30E-07 Kawasaki disease HPOID:0001677 DOID:13378 C intron GWASdb_trait 8 11368731 rs569648905 TC T rs2736354 7.35E-05 Smoking cessation HPOID:0000707 DOID:0050742 C intron GWASdb_trait 8 11369068 rs2618458 A G rs2618458 6.90E-07 Kawasaki disease HPOID:0001677 DOID:13378 C intron GWASdb_trait 8 11369177 rs2618457 A G rs2618457 8.70E-07 Kawasaki disease HPOID:0001677 DOID:13378 C intron GWASdb_trait 8 11369777 rs2736355 T C rs2736355 1.10E-06 Kawasaki disease HPOID:0001677 DOID:13378 C intron GWASdb_trait 8 11369989 rs6993775 G T rs6993775 3.86E-05 Kawasaki disease HPOID:0001677 DOID:13378 T intron GWASdb_trait 8 11369989 rs6993775 G T rs6993775 8.00E-09 Kawasaki disease HPOID:0001677 DOID:13378 T intron GWASdb_trait 8 11369989 rs6993775 G T rs6993775 3.16E-05 Smoking cessation HPOID:0000707 DOID:0050742 T intron GWASdb_trait 8 11370451 rs2736356 C T rs2736356 1.00E-05 Kawasaki disease HPOID:0001677 DOID:13378 T intron GWASdb_trait 8 11370733 rs2618456 G C rs2618456 4.80E-05 Kawasaki disease HPOID:0001677 DOID:13378 G intron GWASdb_trait 8 11370878 rs2618455 A G rs2618455 9.50E-08 Kawasaki disease HPOID:0001677 DOID:13378 T intron GWASdb_trait 8 11370878 rs2618455 A G rs2618455 3.17E-05 Smoking cessation HPOID:0000707 DOID:0050742 T intron GWASdb_trait 8 11371547 rs12674768 C T rs12674768 4.40E-05 Kawasaki disease HPOID:0001677 DOID:13378 C intron GWASdb_trait 8 11372085 rs11990277 T C rs11990277 4.80E-07 Kawasaki disease HPOID:0001677 DOID:13378 T intron GWASdb_trait 8 11372099 rs2736359 G A rs2736359 1.90E-04 Kawasaki disease HPOID:0001677 DOID:13378 G intron GWASdb_trait 8 11372141 rs11250141 G A rs11250141 3.30E-07 Kawasaki disease HPOID:0001677 DOID:13378 G intron GWASdb_trait 8 11372141 rs11250141 G A rs11250141 9.86E-05 Smoking cessation HPOID:0000707 DOID:0050742 G intron GWASdb_trait 8 11372533 rs11250142 G A rs11250142 1.50E-04 Kawasaki disease HPOID:0001677 DOID:13378 A intron GWASdb_trait 8 11372637 rs12677903 T C rs12677903 3.40E-04 Kawasaki disease HPOID:0001677 DOID:13378 T intron GWASdb_trait 8 11373264 rs17153385 C T rs17153385 1.30E-04 Kawasaki disease HPOID:0001677 DOID:13378 C intron GWASdb_trait 8 11373264 rs17153385 C T rs17153385 5.21E-05 Smoking cessation HPOID:0000707 DOID:0050742 C intron GWASdb_trait 8 11373467 rs2736360 G A rs2736360 4.50E-07 Kawasaki disease HPOID:0001677 DOID:13378 G intron GWASdb_trait 8 11373467 rs2736360 G A rs2736360 4.98E-05 Smoking cessation HPOID:0000707 DOID:0050742 G intron GWASdb_trait 8 11374107 rs4841546 C T rs4841546 3.80E-04 Kawasaki disease HPOID:0001677 DOID:13378 C intron GWASdb_trait 8 11378740 rs11991127 A G rs11991127 5.00E-04 Kawasaki disease HPOID:0001677 DOID:13378 A intron GWASdb_trait 8 11383200 rs2898282 T A rs2898282 6.90E-04 Kawasaki disease HPOID:0001677 DOID:13378 T intron GWASdb_trait 8 11384199 rs2021819 G C rs2021819 7.30E-04 Kawasaki disease HPOID:0001677 DOID:13378 C intron GWASdb_trait 8 11384841 rs1382566 G C rs1382566 4.40E-05 Kawasaki disease HPOID:0001677 DOID:13378 G intron GWASdb_trait 8 11384841 rs1382566 G C rs1382566 2.60E-04 Kawasaki disease HPOID:0001677 DOID:13378 G intron GWASdb_trait 8 11384841 rs1382566 G C rs1382566 0.0000023 Ovarian follicle number and menopause NA NA G intron GWASdb_trait 8 11387861 rs7814834 C T rs7814834 4.00E-05 Kawasaki disease HPOID:0001677 DOID:13378 C intron GWASdb_trait 8 11387861 rs7814834 C T rs7814834 8.08E-05 Smoking cessation HPOID:0000707 DOID:0050742 C intron GWASdb_trait 8 11388764 rs2249259 A G rs2249259 1.80E-04 Kawasaki disease HPOID:0001677 DOID:13378 C intron GWASdb_trait 8 11388764 rs2249259 A G rs2249259 6.68E-04 Smoking cessation HPOID:0000707 DOID:0050742 C intron GWASdb_trait 8 11390627 rs58373594 A T rs58373594 7.90E-04 Kawasaki disease HPOID:0001677 DOID:13378 A intron GWASdb_trait 8 11390779 rs2249040 A T rs2249040 4.10E-04 Kawasaki disease HPOID:0001677 DOID:13378 T intron GWASdb_trait 8 11391650 rs2248932 A G rs2248932 7.00E-10 Systemic lupus erythematosus HPOID:0002725 DOID:9074 C intron GWASdb_trait 8 11391650 rs2248932 A G rs2248932 1.63E-14 Systemic lupus erythematosus HPOID:0002725 DOID:9074 C intron GWASdb_trait 8 11391650 rs2248932 A G rs2248932 5.30E-04 Kawasaki disease HPOID:0001677 DOID:13378 C intron GWASdb_trait 8 11393745 rs2248700 G A rs2248700 1.50E-04 Kawasaki disease HPOID:0001677 DOID:13378 C intron GWASdb_trait 8 11394233 rs17153419 A G rs17153419 3.52E-05 Kawasaki disease HPOID:0001677 DOID:13378 A intron GWASdb_trait 8 11395232 rs1478897 T A rs1478897 5.60E-05 Kawasaki disease HPOID:0001677 DOID:13378 A intron GWASdb_trait 8 11395232 rs1478897 T A rs1478897 5.80E-04 Kawasaki disease HPOID:0001677 DOID:13378 A intron GWASdb_trait 8 11396818 rs7014565 C T rs7014565 3.20E-05 Kawasaki disease HPOID:0001677 DOID:13378 C intron GWASdb_trait 8 11396818 rs7014565 C T rs7014565 2.48E-05 Smoking cessation HPOID:0000707 DOID:0050742 C intron GWASdb_trait 8 11396914 rs2169889 C T rs2169889 2.81E-04 Smoking initiation HPOID:0000707 DOID:0050742 A intron GWASdb_trait 8 11404514 rs7820492 G A rs7820492 9.01E-05 Adverse response to chemotherapy (neutropenia/leucopenia) (docetaxel) HPOID:0001875|HPOID:0001882 DOID:1227 G intron GWASdb_trait 8 11409992 rs2255327 C T rs2255327 3.00E-07 Immune response to smallpox vaccine (IL-6) HPOID:0005368 DOID:8736 C intron GWASdb_trait 8 11410987 rs936550 C A rs936550 6.74E-04 Amyotrophic Lateral Sclerosis HPOID:0007354 DOID:332 C intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000136573.12 BLK 191305