Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 19473 single nucleotide variant NM_003978.4(PSTPIP1):c.748G>C (p.Glu250Gln) 28939089 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77324645 77324645 G C 19473 single nucleotide variant NM_003978.4(PSTPIP1):c.748G>C (p.Glu250Gln) 28939089 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77032304 77032304 G C 19474 single nucleotide variant NM_003978.4(PSTPIP1):c.688G>A (p.Ala230Thr) 121908130 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77323566 77323566 G A 19474 single nucleotide variant NM_003978.4(PSTPIP1):c.688G>A (p.Ala230Thr) 121908130 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77031225 77031225 G A 103701 duplication NM_003978.4(PSTPIP1):c.741+32_741+33dupGT 104895417 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77323651 77323652 GT GTGT 103701 duplication NM_003978.4(PSTPIP1):c.741+32_741+33dupGT 104895417 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77031310 77031311 GT GTGT 103702 single nucleotide variant NM_003978.4(PSTPIP1):c.748G>A (p.Glu250Lys) 28939089 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126;MedGen:CN221809 15 77324645 77324645 G A 103702 single nucleotide variant NM_003978.4(PSTPIP1):c.748G>A (p.Glu250Lys) 28939089 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126;MedGen:CN221809 15 77032304 77032304 G A 103703 single nucleotide variant NM_003978.4(PSTPIP1):c.796G>A (p.Asp266Asn) 104895418 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77324693 77324693 G A 103703 single nucleotide variant NM_003978.4(PSTPIP1):c.796G>A (p.Asp266Asn) 104895418 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77032352 77032352 G A 142521 single nucleotide variant NM_003978.4(PSTPIP1):c.204G>A (p.Thr68=) 113386299 MedGen:CN169374 15 77018523 77018523 G A 142521 single nucleotide variant NM_003978.4(PSTPIP1):c.204G>A (p.Thr68=) 113386299 MedGen:CN169374 15 77310864 77310864 G A 142522 single nucleotide variant NM_003978.4(PSTPIP1):c.212+12C>T 3812914 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126;MedGen:CN169374 15 77018543 77018543 C T 142522 single nucleotide variant NM_003978.4(PSTPIP1):c.212+12C>T 3812914 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126;MedGen:CN169374 15 77310884 77310884 C T 142523 single nucleotide variant NM_003978.4(PSTPIP1):c.247+20G>A 188931087 MedGen:CN169374 15 77025338 77025338 G A 142523 single nucleotide variant NM_003978.4(PSTPIP1):c.247+20G>A 188931087 MedGen:CN169374 15 77317679 77317679 G A 142524 single nucleotide variant NM_003978.4(PSTPIP1):c.354+10G>A 370745407 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126;MedGen:CN169374 15 77025614 77025614 G A 142524 single nucleotide variant NM_003978.4(PSTPIP1):c.354+10G>A 370745407 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126;MedGen:CN169374 15 77317955 77317955 G A 142525 single nucleotide variant NM_003978.4(PSTPIP1):c.354+20C>T 184279306 MedGen:CN169374 15 77025624 77025624 C T 142525 single nucleotide variant NM_003978.4(PSTPIP1):c.354+20C>T 184279306 MedGen:CN169374 15 77317965 77317965 C T 142526 single nucleotide variant NM_003978.4(PSTPIP1):c.563-8G>A 183441330 MedGen:CN169374 15 77030494 77030494 G A 142526 single nucleotide variant NM_003978.4(PSTPIP1):c.563-8G>A 183441330 MedGen:CN169374 15 77322835 77322835 G A 142527 single nucleotide variant NM_003978.4(PSTPIP1):c.642+16G>A 78282498 MedGen:CN169374 15 77030597 77030597 G A 142527 single nucleotide variant NM_003978.4(PSTPIP1):c.642+16G>A 78282498 MedGen:CN169374 15 77322938 77322938 G A 142528 single nucleotide variant NM_003978.4(PSTPIP1):c.747C>T (p.Tyr249=) 557759616 MedGen:CN169374 15 77032303 77032303 C T 142528 single nucleotide variant NM_003978.4(PSTPIP1):c.747C>T (p.Tyr249=) 557759616 MedGen:CN169374 15 77324644 77324644 C T 142529 single nucleotide variant NM_003978.4(PSTPIP1):c.786C>T (p.Asp262=) 35860563 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126;MedGen:CN169374 15 77032342 77032342 C T 142529 single nucleotide variant NM_003978.4(PSTPIP1):c.786C>T (p.Asp262=) 35860563 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126;MedGen:CN169374 15 77324683 77324683 C T 142530 single nucleotide variant NM_003978.4(PSTPIP1):c.837C>T (p.Pro279=) 149195362 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126;MedGen:CN169374 15 77032393 77032393 C T 142530 single nucleotide variant NM_003978.4(PSTPIP1):c.837C>T (p.Pro279=) 149195362 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126;MedGen:CN169374 15 77324734 77324734 C T 142531 single nucleotide variant NM_003978.4(PSTPIP1):c.908C>T (p.Pro303Leu) 189773500 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126;MedGen:CN169374 15 77032931 77032931 C T 142531 single nucleotide variant NM_003978.4(PSTPIP1):c.908C>T (p.Pro303Leu) 189773500 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126;MedGen:CN169374 15 77325272 77325272 C T 142532 single nucleotide variant NM_003978.4(PSTPIP1):c.929+17C>T 372335370 MedGen:CN169374 15 77032969 77032969 C T 142532 single nucleotide variant NM_003978.4(PSTPIP1):c.929+17C>T 372335370 MedGen:CN169374 15 77325310 77325310 C T 142533 single nucleotide variant NM_003978.4(PSTPIP1):c.985+6G>C 139552419 MedGen:CN169374 15 77035569 77035569 G C 142533 single nucleotide variant NM_003978.4(PSTPIP1):c.985+6G>C 139552419 MedGen:CN169374 15 77327910 77327910 G C 142534 single nucleotide variant NM_003978.4(PSTPIP1):c.1116G>A (p.Ala372=) 369835681 MedGen:CN169374 15 77035932 77035932 G A 142534 single nucleotide variant NM_003978.4(PSTPIP1):c.1116G>A (p.Ala372=) 369835681 MedGen:CN169374 15 77328273 77328273 G A 142535 single nucleotide variant NM_003978.4(PSTPIP1):c.1182T>C (p.Asp394=) 199804922 MedGen:CN169374 15 77037107 77037107 T C 142535 single nucleotide variant NM_003978.4(PSTPIP1):c.1182T>C (p.Asp394=) 199804922 MedGen:CN169374 15 77329448 77329448 T C 142536 single nucleotide variant NM_003978.4(PSTPIP1):c.1206C>T (p.Asn402=) 146035424 MedGen:CN169374 15 77037131 77037131 C T 142536 single nucleotide variant NM_003978.4(PSTPIP1):c.1206C>T (p.Asn402=) 146035424 MedGen:CN169374 15 77329472 77329472 C T 243838 single nucleotide variant NM_003978.4(PSTPIP1):c.236C>T (p.Ser79Phe) 77026017 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126;MedGen:CN169374 15 77025307 77025307 C T 243838 single nucleotide variant NM_003978.4(PSTPIP1):c.236C>T (p.Ser79Phe) 77026017 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126;MedGen:CN169374 15 77317648 77317648 C T 243839 single nucleotide variant NM_003978.4(PSTPIP1):c.1208G>A (p.Gly403Glu) 201572812 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126;MedGen:CN169374 15 77037133 77037133 G A 243839 single nucleotide variant NM_003978.4(PSTPIP1):c.1208G>A (p.Gly403Glu) 201572812 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126;MedGen:CN169374 15 77329474 77329474 G A 243840 deletion NM_003978.4(PSTPIP1):c.517_518delAG (p.Gln174Glufs) 878855322 MedGen:CN221809 15 77321870 77321871 AG - 243840 deletion NM_003978.4(PSTPIP1):c.517_518delAG (p.Gln174Glufs) 878855322 MedGen:CN221809 15 77029529 77029530 AG - 243841 single nucleotide variant NM_003978.4(PSTPIP1):c.1213C>T (p.Arg405Cys) 201253322 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126;MedGen:CN169374 15 77037138 77037138 C T 243841 single nucleotide variant NM_003978.4(PSTPIP1):c.1213C>T (p.Arg405Cys) 201253322 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126;MedGen:CN169374 15 77329479 77329479 C T 243843 single nucleotide variant NM_003978.4(PSTPIP1):c.82C>T (p.Arg28Trp) 767330325 MedGen:CN169374 15 77310534 77310534 C T 243843 single nucleotide variant NM_003978.4(PSTPIP1):c.82C>T (p.Arg28Trp) 767330325 MedGen:CN169374 15 77018193 77018193 C T 243844 single nucleotide variant NM_003978.4(PSTPIP1):c.1151A>G (p.Asp384Gly) 200771233 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126;MedGen:CN169374 15 77329417 77329417 A G 243844 single nucleotide variant NM_003978.4(PSTPIP1):c.1151A>G (p.Asp384Gly) 200771233 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126;MedGen:CN169374 15 77037076 77037076 A G 243845 single nucleotide variant NM_003978.4(PSTPIP1):c.37T>G (p.Cys13Gly) 376128040 MedGen:CN169374 15 77018148 77018148 T G 243845 single nucleotide variant NM_003978.4(PSTPIP1):c.37T>G (p.Cys13Gly) 376128040 MedGen:CN169374 15 77310489 77310489 T G 243846 single nucleotide variant NM_003978.4(PSTPIP1):c.839C>T (p.Ala280Val) 139351566 MedGen:CN169374 15 77325203 77325203 C T 243846 single nucleotide variant NM_003978.4(PSTPIP1):c.839C>T (p.Ala280Val) 139351566 MedGen:CN169374 15 77032862 77032862 C T 244927 single nucleotide variant NM_003978.4(PSTPIP1):c.37-5C>T 879254119 MedGen:CN169374 15 77018143 77018143 C T 244927 single nucleotide variant NM_003978.4(PSTPIP1):c.37-5C>T 879254119 MedGen:CN169374 15 77310484 77310484 C T 244928 single nucleotide variant NM_003978.4(PSTPIP1):c.138-6T>C 765550656 MedGen:CN169374 15 77018451 77018451 T C 244928 single nucleotide variant NM_003978.4(PSTPIP1):c.138-6T>C 765550656 MedGen:CN169374 15 77310792 77310792 T C 244929 duplication NM_003978.4(PSTPIP1):c.138-5dupT 879253895 MedGen:CN169374 15 77018452 77018452 T TT 244929 duplication NM_003978.4(PSTPIP1):c.138-5dupT 879253895 MedGen:CN169374 15 77310793 77310793 T TT 244930 single nucleotide variant NM_003978.4(PSTPIP1):c.355-16C>G 767272289 MedGen:CN169374 15 77320177 77320177 C G 244930 single nucleotide variant NM_003978.4(PSTPIP1):c.355-16C>G 767272289 MedGen:CN169374 15 77027836 77027836 C G 244931 single nucleotide variant NM_003978.4(PSTPIP1):c.418-20A>G 545542379 MedGen:CN169374 15 77028534 77028534 A G 244931 single nucleotide variant NM_003978.4(PSTPIP1):c.418-20A>G 545542379 MedGen:CN169374 15 77320875 77320875 A G 244932 single nucleotide variant NM_003978.4(PSTPIP1):c.558G>A (p.Glu186=) 879254120 MedGen:CN169374 15 77029570 77029570 G A 244932 single nucleotide variant NM_003978.4(PSTPIP1):c.558G>A (p.Glu186=) 879254120 MedGen:CN169374 15 77321911 77321911 G A 244933 single nucleotide variant NM_003978.4(PSTPIP1):c.564G>A (p.Glu188=) 879253893 MedGen:CN169374 15 77030503 77030503 G A 244933 single nucleotide variant NM_003978.4(PSTPIP1):c.564G>A (p.Glu188=) 879253893 MedGen:CN169374 15 77322844 77322844 G A 244934 single nucleotide variant NM_003978.4(PSTPIP1):c.643-13C>A 200459219 MedGen:CN169374 15 77323508 77323508 C A 244934 single nucleotide variant NM_003978.4(PSTPIP1):c.643-13C>A 200459219 MedGen:CN169374 15 77031167 77031167 C A 244935 single nucleotide variant NM_003978.4(PSTPIP1):c.657A>C (p.Gln219His) 139362350 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126;MedGen:CN169374 15 77323535 77323535 A C 244935 single nucleotide variant NM_003978.4(PSTPIP1):c.657A>C (p.Gln219His) 139362350 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126;MedGen:CN169374 15 77031194 77031194 A C 244936 single nucleotide variant NM_003978.4(PSTPIP1):c.882G>A (p.Pro294=) 200796501 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126;MedGen:CN169374 15 77032905 77032905 G A 244936 single nucleotide variant NM_003978.4(PSTPIP1):c.882G>A (p.Pro294=) 200796501 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126;MedGen:CN169374 15 77325246 77325246 G A 244937 single nucleotide variant NM_003978.4(PSTPIP1):c.1014C>T (p.Pro338=) 368838637 MedGen:CN169374 15 77035830 77035830 C T 244937 single nucleotide variant NM_003978.4(PSTPIP1):c.1014C>T (p.Pro338=) 368838637 MedGen:CN169374 15 77328171 77328171 C T 244938 single nucleotide variant NM_003978.4(PSTPIP1):c.1221C>A (p.Phe407Leu) 200363654 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126;MedGen:CN169374 15 77329487 77329487 C A 244938 single nucleotide variant NM_003978.4(PSTPIP1):c.1221C>A (p.Phe407Leu) 200363654 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126;MedGen:CN169374 15 77037146 77037146 C A 255362 single nucleotide variant NM_003978.4(PSTPIP1):c.36+15T>C 752123803 MedGen:CN169374 15 76995624 76995624 T C 255362 single nucleotide variant NM_003978.4(PSTPIP1):c.36+15T>C 752123803 MedGen:CN169374 15 77287965 77287965 T C 255363 single nucleotide variant NM_003978.4(PSTPIP1):c.147G>A (p.Ala49=) 34618738 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126;MedGen:CN169374 15 77310807 77310807 G A 255363 single nucleotide variant NM_003978.4(PSTPIP1):c.147G>A (p.Ala49=) 34618738 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126;MedGen:CN169374 15 77018466 77018466 G A 255364 single nucleotide variant NM_003978.4(PSTPIP1):c.355-17C>T 886038536 MedGen:CN169374 15 77320176 77320176 C T 255364 single nucleotide variant NM_003978.4(PSTPIP1):c.355-17C>T 886038536 MedGen:CN169374 15 77027835 77027835 C T 255365 single nucleotide variant NM_003978.4(PSTPIP1):c.773G>C (p.Gly258Ala) 34240327 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126;MedGen:CN169374 15 77324670 77324670 G C 255365 single nucleotide variant NM_003978.4(PSTPIP1):c.773G>C (p.Gly258Ala) 34240327 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126;MedGen:CN169374 15 77032329 77032329 G C 255366 single nucleotide variant NM_003978.4(PSTPIP1):c.915C>T (p.Cys305=) 11858480 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126;MedGen:CN169374 15 77325279 77325279 C T 255366 single nucleotide variant NM_003978.4(PSTPIP1):c.915C>T (p.Cys305=) 11858480 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126;MedGen:CN169374 15 77032938 77032938 C T 255367 single nucleotide variant NM_003978.4(PSTPIP1):c.1098G>A (p.Ala366=) 35538044 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126;MedGen:CN169374 15 77328255 77328255 G A 255367 single nucleotide variant NM_003978.4(PSTPIP1):c.1098G>A (p.Ala366=) 35538044 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126;MedGen:CN169374 15 77035914 77035914 G A 265178 single nucleotide variant NM_003978.4(PSTPIP1):c.364G>A (p.Val122Ile) 886041107 MedGen:C0004943,OMIM:109650,Orphanet:ORPHA117,SNOMED CT:C0004943;MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77320202 77320202 G A 265178 single nucleotide variant NM_003978.4(PSTPIP1):c.364G>A (p.Val122Ile) 886041107 MedGen:C0004943,OMIM:109650,Orphanet:ORPHA117,SNOMED CT:C0004943;MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77027861 77027861 G A 265179 single nucleotide variant NM_003978.4(PSTPIP1):c.865G>C (p.Asp289His) 774164456 MedGen:C0004943,OMIM:109650,Orphanet:ORPHA117,SNOMED CT:C0004943 15 77032888 77032888 G C 265179 single nucleotide variant NM_003978.4(PSTPIP1):c.865G>C (p.Asp289His) 774164456 MedGen:C0004943,OMIM:109650,Orphanet:ORPHA117,SNOMED CT:C0004943 15 77325229 77325229 G C 323401 duplication NM_003978.4(PSTPIP1):c.-405_-402dupCCTG 55909412 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 76995169 76995172 CCTG CCTGCCTG 323401 duplication NM_003978.4(PSTPIP1):c.-405_-402dupCCTG 55909412 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77287510 77287513 CCTG CCTGCCTG 323407 duplication NM_003978.4(PSTPIP1):c.-275_-271dupGCTGG 886051491 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 76995299 76995303 GCTGG GCTGGGCTGG 323407 duplication NM_003978.4(PSTPIP1):c.-275_-271dupGCTGG 886051491 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77287640 77287644 GCTGG GCTGGGCTGG 323408 single nucleotide variant NM_003978.4(PSTPIP1):c.59C>T (p.Thr20Met) 553718554 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77018170 77018170 C T 323408 single nucleotide variant NM_003978.4(PSTPIP1):c.59C>T (p.Thr20Met) 553718554 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77310511 77310511 C T 323414 single nucleotide variant NM_003978.4(PSTPIP1):c.652C>T (p.Leu218=) 35677716 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77323530 77323530 C T 323414 single nucleotide variant NM_003978.4(PSTPIP1):c.652C>T (p.Leu218=) 35677716 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77031189 77031189 C T 323421 single nucleotide variant NM_003978.4(PSTPIP1):c.856A>G (p.Asn286Asp) 377437961 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126;MedGen:CN169374 15 77032879 77032879 A G 323421 single nucleotide variant NM_003978.4(PSTPIP1):c.856A>G (p.Asn286Asp) 377437961 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126;MedGen:CN169374 15 77325220 77325220 A G 333090 duplication NM_003978.4(PSTPIP1):c.-413_-402dupCCTGCCTGCCTG 55909412 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 76995161 76995172 CCTGCCTGCCTG CCTGCCTGCCTGCCTGCCTGCCTG 333090 duplication NM_003978.4(PSTPIP1):c.-413_-402dupCCTGCCTGCCTG 55909412 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77287502 77287513 CCTGCCTGCCTG CCTGCCTGCCTGCCTGCCTGCCTG 333092 single nucleotide variant NM_003978.4(PSTPIP1):c.-171A>T 546291000 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 76995403 76995403 A T 333092 single nucleotide variant NM_003978.4(PSTPIP1):c.-171A>T 546291000 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77287744 77287744 A T 333093 single nucleotide variant NM_003978.4(PSTPIP1):c.203C>T (p.Thr68Met) 201872851 MedGen:C0004943,OMIM:109650,Orphanet:ORPHA117,SNOMED CT:C0004943;MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77018522 77018522 C T 333093 single nucleotide variant NM_003978.4(PSTPIP1):c.203C>T (p.Thr68Met) 201872851 MedGen:C0004943,OMIM:109650,Orphanet:ORPHA117,SNOMED CT:C0004943;MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77310863 77310863 C T 333094 single nucleotide variant NM_003978.4(PSTPIP1):c.543G>A (p.Lys181=) 375950478 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77321896 77321896 G A 333094 single nucleotide variant NM_003978.4(PSTPIP1):c.543G>A (p.Lys181=) 375950478 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77029555 77029555 G A 333096 single nucleotide variant NM_003978.4(PSTPIP1):c.586G>A (p.Ala196Thr) 758911910 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77322866 77322866 G A 333096 single nucleotide variant NM_003978.4(PSTPIP1):c.586G>A (p.Ala196Thr) 758911910 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77030525 77030525 G A 333097 single nucleotide variant NM_003978.4(PSTPIP1):c.940C>T (p.Leu314=) 201582038 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77327859 77327859 C T 333097 single nucleotide variant NM_003978.4(PSTPIP1):c.940C>T (p.Leu314=) 201582038 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77035518 77035518 C T 333099 single nucleotide variant NM_003978.4(PSTPIP1):c.1079C>T (p.Pro360Leu) 768897476 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77035895 77035895 C T 333099 single nucleotide variant NM_003978.4(PSTPIP1):c.1079C>T (p.Pro360Leu) 768897476 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77328236 77328236 C T 333100 single nucleotide variant NM_003978.4(PSTPIP1):c.1112C>T (p.Thr371Ile) 34908107 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77035928 77035928 C T 333100 single nucleotide variant NM_003978.4(PSTPIP1):c.1112C>T (p.Thr371Ile) 34908107 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77328269 77328269 C T 333106 single nucleotide variant NM_003978.4(PSTPIP1):c.1143C>T (p.Ser381=) 141227274 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77037068 77037068 C T 333106 single nucleotide variant NM_003978.4(PSTPIP1):c.1143C>T (p.Ser381=) 141227274 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77329409 77329409 C T 333110 single nucleotide variant NM_003978.4(PSTPIP1):c.1144G>A (p.Ala382Thr) 145344175 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77037069 77037069 G A 333110 single nucleotide variant NM_003978.4(PSTPIP1):c.1144G>A (p.Ala382Thr) 145344175 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77329410 77329410 G A 333112 single nucleotide variant NM_003978.4(PSTPIP1):c.1145C>T (p.Ala382Val) 202205180 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77037070 77037070 C T 333112 single nucleotide variant NM_003978.4(PSTPIP1):c.1145C>T (p.Ala382Val) 202205180 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77329411 77329411 C T 333115 single nucleotide variant NM_003978.4(PSTPIP1):c.1248T>C (p.Leu416=) 556322755 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77037173 77037173 T C 333115 single nucleotide variant NM_003978.4(PSTPIP1):c.1248T>C (p.Leu416=) 556322755 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77329514 77329514 T C 333118 single nucleotide variant NM_003978.4(PSTPIP1):c.*123T>C 886051494 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77037299 77037299 T C 333118 single nucleotide variant NM_003978.4(PSTPIP1):c.*123T>C 886051494 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77329640 77329640 T C 339914 single nucleotide variant NM_003978.4(PSTPIP1):c.-436G>A 548828496 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 76995138 76995138 G A 339914 single nucleotide variant NM_003978.4(PSTPIP1):c.-436G>A 548828496 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77287479 77287479 G A 339917 single nucleotide variant NM_003978.4(PSTPIP1):c.-367G>A 886051490 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 76995207 76995207 G A 339917 single nucleotide variant NM_003978.4(PSTPIP1):c.-367G>A 886051490 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77287548 77287548 G A 339918 single nucleotide variant NM_003978.4(PSTPIP1):c.-124C>T 760819203 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 76995450 76995450 C T 339918 single nucleotide variant NM_003978.4(PSTPIP1):c.-124C>T 760819203 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77287791 77287791 C T 339928 single nucleotide variant NM_003978.4(PSTPIP1):c.326G>A (p.Arg109His) 772315853 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77025576 77025576 G A 339928 single nucleotide variant NM_003978.4(PSTPIP1):c.326G>A (p.Arg109His) 772315853 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77317917 77317917 G A 339932 single nucleotide variant NM_003978.4(PSTPIP1):c.475G>C (p.Glu159Gln) 886051493 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77320952 77320952 G C 339932 single nucleotide variant NM_003978.4(PSTPIP1):c.475G>C (p.Glu159Gln) 886051493 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77028611 77028611 G C 339936 single nucleotide variant NM_003978.4(PSTPIP1):c.795C>T (p.Ile265=) 368528834 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77032351 77032351 C T 339936 single nucleotide variant NM_003978.4(PSTPIP1):c.795C>T (p.Ile265=) 368528834 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77324692 77324692 C T 339937 single nucleotide variant NM_003978.4(PSTPIP1):c.1054G>A (p.Glu352Lys) 201186216 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77035870 77035870 G A 339937 single nucleotide variant NM_003978.4(PSTPIP1):c.1054G>A (p.Glu352Lys) 201186216 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77328211 77328211 G A 339938 single nucleotide variant NM_003978.4(PSTPIP1):c.*93C>T 554408944 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77037269 77037269 C T 339938 single nucleotide variant NM_003978.4(PSTPIP1):c.*93C>T 554408944 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77329610 77329610 C T 339947 single nucleotide variant NM_003978.4(PSTPIP1):c.*122G>A 527679453 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77037298 77037298 G A 339947 single nucleotide variant NM_003978.4(PSTPIP1):c.*122G>A 527679453 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77329639 77329639 G A 341331 single nucleotide variant NM_003978.4(PSTPIP1):c.-117C>T 147120980 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 76995457 76995457 C T 341331 single nucleotide variant NM_003978.4(PSTPIP1):c.-117C>T 147120980 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77287798 77287798 C T 341337 deletion NM_003978.4(PSTPIP1):c.418-4_418-3delCC 886051492 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77320891 77320892 CC - 341337 deletion NM_003978.4(PSTPIP1):c.418-4_418-3delCC 886051492 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77028550 77028551 CC - 341338 single nucleotide variant NM_003978.4(PSTPIP1):c.555C>T (p.Thr185=) 370782742 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77321908 77321908 C T 341338 single nucleotide variant NM_003978.4(PSTPIP1):c.555C>T (p.Thr185=) 370782742 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77029567 77029567 C T 341339 single nucleotide variant NM_003978.4(PSTPIP1):c.629G>A (p.Arg210Gln) 776576205 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77322909 77322909 G A 341339 single nucleotide variant NM_003978.4(PSTPIP1):c.629G>A (p.Arg210Gln) 776576205 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77030568 77030568 G A 341343 single nucleotide variant NM_003978.4(PSTPIP1):c.*38T>C 201535027 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77037214 77037214 T C 341343 single nucleotide variant NM_003978.4(PSTPIP1):c.*38T>C 201535027 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77329555 77329555 T C 341354 single nucleotide variant NM_003978.4(PSTPIP1):c.*51G>A 117378779 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77037227 77037227 G A 341354 single nucleotide variant NM_003978.4(PSTPIP1):c.*51G>A 117378779 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77329568 77329568 G A 341357 single nucleotide variant NM_003978.4(PSTPIP1):c.*121C>T 566906535 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77037297 77037297 C T 341357 single nucleotide variant NM_003978.4(PSTPIP1):c.*121C>T 566906535 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77329638 77329638 C T 353330 deletion NM_003978.4(PSTPIP1):c.*154_*156delCTC 147238110 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77329671 77329673 CTC - 353330 deletion NM_003978.4(PSTPIP1):c.*154_*156delCTC 147238110 MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126 15 77037330 77037332 CTC - 361627 single nucleotide variant NM_003978.4(PSTPIP1):c.7C>T (p.Pro3Ser) -1 MedGen:CN221809 15 76995580 76995580 C T 361627 single nucleotide variant NM_003978.4(PSTPIP1):c.7C>T (p.Pro3Ser) -1 MedGen:CN221809 15 77287921 77287921 C T

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 15 77314974 rs4420499 G T rs4420499 3.60E-04 ALANINE|PROLINE TNIP1 PROTEIN, HUMAN|HLA-B8 ANTIGEN|DNA-BINDING PROTEINS Myasthenia gravis HPOID:0001290 DOID:437 G intron GWASdb_drug 15 77314974 rs4420499 G T rs4420499 3.60E-04 Myasthenia gravis HPOID:0001290 DOID:437 G intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000140368.12 PSTPIP1 606347