Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 20742 indel NM_012120.2(CD2AP):c.730-1_730delGCinsCT 387906340 MedGen:CN068928 6 47544259 47544260 GC CT 20742 indel NM_012120.2(CD2AP):c.730-1_730delGCinsCT 387906340 MedGen:CN068928 6 47576523 47576524 GC CT 20743 single nucleotide variant NM_012120.2(CD2AP):c.1834C>T (p.Arg612Ter) 267606710 MedGen:CN068928 6 47580228 47580228 C T 20743 single nucleotide variant NM_012120.2(CD2AP):c.1834C>T (p.Arg612Ter) 267606710 MedGen:CN068928 6 47612492 47612492 C T 221033 single nucleotide variant NM_012120.2(CD2AP):c.560C>T (p.Pro187Leu) 864622037 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 6 47541818 47541818 C T 221033 single nucleotide variant NM_012120.2(CD2AP):c.560C>T (p.Pro187Leu) 864622037 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 6 47574082 47574082 C T 252381 single nucleotide variant NM_012120.2(CD2AP):c.4+16G>A 370143870 MedGen:CN169374 6 47478264 47478264 G A 252381 single nucleotide variant NM_012120.2(CD2AP):c.4+16G>A 370143870 MedGen:CN169374 6 47446000 47446000 G A 252382 single nucleotide variant NM_012120.2(CD2AP):c.219A>G (p.Glu73=) 7749045 MedGen:CN043606;MedGen:CN169374 6 47533655 47533655 A G 252382 single nucleotide variant NM_012120.2(CD2AP):c.219A>G (p.Glu73=) 7749045 MedGen:CN043606;MedGen:CN169374 6 47501391 47501391 A G 252383 single nucleotide variant NM_012120.2(CD2AP):c.696C>T (p.Ser232=) 140627775 MedGen:CN043606;MedGen:CN169374 6 47574218 47574218 C T 252383 single nucleotide variant NM_012120.2(CD2AP):c.696C>T (p.Ser232=) 140627775 MedGen:CN043606;MedGen:CN169374 6 47541954 47541954 C T 252384 single nucleotide variant NM_012120.2(CD2AP):c.792C>T (p.Thr264=) 144912461 MedGen:CN169374 6 47544322 47544322 C T 252384 single nucleotide variant NM_012120.2(CD2AP):c.792C>T (p.Thr264=) 144912461 MedGen:CN169374 6 47576586 47576586 C T 252385 single nucleotide variant NM_012120.2(CD2AP):c.809-11C>A 76153148 MedGen:CN043606;MedGen:CN169374 6 47576998 47576998 C A 252385 single nucleotide variant NM_012120.2(CD2AP):c.809-11C>A 76153148 MedGen:CN043606;MedGen:CN169374 6 47544734 47544734 C A 252386 single nucleotide variant NM_012120.2(CD2AP):c.1120A>G (p.Thr374Ala) 138727736 MedGen:CN043606;MedGen:CN169374 6 47563608 47563608 A G 252386 single nucleotide variant NM_012120.2(CD2AP):c.1120A>G (p.Thr374Ala) 138727736 MedGen:CN043606;MedGen:CN169374 6 47595872 47595872 A G 252387 single nucleotide variant NM_012120.2(CD2AP):c.1204C>T (p.Leu402=) 2039503 MedGen:CN043606;MedGen:CN169374 6 47595956 47595956 C T 252387 single nucleotide variant NM_012120.2(CD2AP):c.1204C>T (p.Leu402=) 2039503 MedGen:CN043606;MedGen:CN169374 6 47563692 47563692 C T 252388 single nucleotide variant NM_012120.2(CD2AP):c.1275-20G>A 9473135 MedGen:CN169374 6 47599281 47599281 G A 252388 single nucleotide variant NM_012120.2(CD2AP):c.1275-20G>A 9473135 MedGen:CN169374 6 47567017 47567017 G A 252389 single nucleotide variant NM_012120.2(CD2AP):c.1275-18G>A 886038583 MedGen:CN169374 6 47599283 47599283 G A 252389 single nucleotide variant NM_012120.2(CD2AP):c.1275-18G>A 886038583 MedGen:CN169374 6 47567019 47567019 G A 252390 single nucleotide variant NM_012120.2(CD2AP):c.1417+19C>T 185609509 MedGen:CN169374 6 47567198 47567198 C T 252390 single nucleotide variant NM_012120.2(CD2AP):c.1417+19C>T 185609509 MedGen:CN169374 6 47599462 47599462 C T 252391 single nucleotide variant NM_012120.2(CD2AP):c.1530+20G>A 185360746 MedGen:CN169374 6 47574033 47574033 G A 252391 single nucleotide variant NM_012120.2(CD2AP):c.1530+20G>A 185360746 MedGen:CN169374 6 47606297 47606297 G A 252392 single nucleotide variant NM_012120.2(CD2AP):c.1632+8G>T 77917916 MedGen:CN043606;MedGen:CN169374 6 47608036 47608036 G T 252392 single nucleotide variant NM_012120.2(CD2AP):c.1632+8G>T 77917916 MedGen:CN043606;MedGen:CN169374 6 47575772 47575772 G T 252393 single nucleotide variant NM_012120.2(CD2AP):c.1743T>A (p.Asn581Lys) 34069459 MedGen:CN169374 6 47576969 47576969 T A 252393 single nucleotide variant NM_012120.2(CD2AP):c.1743T>A (p.Asn581Lys) 34069459 MedGen:CN169374 6 47609233 47609233 T A 252394 single nucleotide variant NM_012120.2(CD2AP):c.1898A>G (p.Lys633Arg) 116754410 MedGen:CN043606;MedGen:CN169374 6 47624205 47624205 A G 252394 single nucleotide variant NM_012120.2(CD2AP):c.1898A>G (p.Lys633Arg) 116754410 MedGen:CN043606;MedGen:CN169374 6 47591941 47591941 A G 300444 single nucleotide variant NM_012120.2(CD2AP):c.-441C>G 111766401 MedGen:CN043606 6 47477804 47477804 C G 300444 single nucleotide variant NM_012120.2(CD2AP):c.-441C>G 111766401 MedGen:CN043606 6 47445540 47445540 C G 300454 single nucleotide variant NM_012120.2(CD2AP):c.-297G>C 9369697 MedGen:CN043606 6 47477948 47477948 G C 300454 single nucleotide variant NM_012120.2(CD2AP):c.-297G>C 9369697 MedGen:CN043606 6 47445684 47445684 G C 300455 single nucleotide variant NM_012120.2(CD2AP):c.-192A>C 1056434 MedGen:CN043606 6 47478053 47478053 A C 300455 single nucleotide variant NM_012120.2(CD2AP):c.-192A>C 1056434 MedGen:CN043606 6 47445789 47445789 A C 300459 single nucleotide variant NM_012120.2(CD2AP):c.326A>G (p.Lys109Arg) 886061518 MedGen:CN043606 6 47544612 47544612 A G 300459 single nucleotide variant NM_012120.2(CD2AP):c.326A>G (p.Lys109Arg) 886061518 MedGen:CN043606 6 47512348 47512348 A G 300460 single nucleotide variant NM_012120.2(CD2AP):c.530A>G (p.Gln177Arg) 886061520 MedGen:CN043606 6 47554755 47554755 A G 300460 single nucleotide variant NM_012120.2(CD2AP):c.530A>G (p.Gln177Arg) 886061520 MedGen:CN043606 6 47522491 47522491 A G 300461 single nucleotide variant NM_012120.2(CD2AP):c.541+14T>A 766983546 MedGen:CN043606 6 47554780 47554780 T A 300461 single nucleotide variant NM_012120.2(CD2AP):c.541+14T>A 766983546 MedGen:CN043606 6 47522516 47522516 T A 300470 single nucleotide variant NM_012120.2(CD2AP):c.1188C>G (p.Thr396=) 147254896 MedGen:CN043606 6 47563676 47563676 C G 300470 single nucleotide variant NM_012120.2(CD2AP):c.1188C>G (p.Thr396=) 147254896 MedGen:CN043606 6 47595940 47595940 C G 300473 single nucleotide variant NM_012120.2(CD2AP):c.1404C>T (p.Thr468=) 145347609 MedGen:CN043606 6 47599430 47599430 C T 300473 single nucleotide variant NM_012120.2(CD2AP):c.1404C>T (p.Thr468=) 145347609 MedGen:CN043606 6 47567166 47567166 C T 300474 single nucleotide variant NM_012120.2(CD2AP):c.1673C>T (p.Ala558Val) 146444716 MedGen:CN043606 6 47609163 47609163 C T 300474 single nucleotide variant NM_012120.2(CD2AP):c.1673C>T (p.Ala558Val) 146444716 MedGen:CN043606 6 47576899 47576899 C T 300480 deletion NM_012120.2(CD2AP):c.*367delT 797004904 MedGen:CN043606 6 47624594 47624594 T - 300480 deletion NM_012120.2(CD2AP):c.*367delT 797004904 MedGen:CN043606 6 47592330 47592330 T - 300481 deletion NM_012120.2(CD2AP):c.*490_*495delGTGTGT 886061527 MedGen:CN043606 6 47624717 47624722 GTGTGT - 300481 deletion NM_012120.2(CD2AP):c.*490_*495delGTGTGT 886061527 MedGen:CN043606 6 47592453 47592458 GTGTGT - 300485 single nucleotide variant NM_012120.2(CD2AP):c.*492G>A 866946718 MedGen:CN043606 6 47624719 47624719 G A 300485 single nucleotide variant NM_012120.2(CD2AP):c.*492G>A 866946718 MedGen:CN043606 6 47592455 47592455 G A 300486 deletion NM_012120.2(CD2AP):c.*492_*497delGTGTAT 886061529 MedGen:CN043606 6 47624719 47624724 GTGTAT - 300486 deletion NM_012120.2(CD2AP):c.*492_*497delGTGTAT 886061529 MedGen:CN043606 6 47592455 47592460 GTGTAT - 300489 single nucleotide variant NM_012120.2(CD2AP):c.*496A>G 9463343 MedGen:CN043606 6 47624723 47624723 A G 300489 single nucleotide variant NM_012120.2(CD2AP):c.*496A>G 9463343 MedGen:CN043606 6 47592459 47592459 A G 300490 indel NM_012120.2(CD2AP):c.*496_*504delATATATATAinsGTGTG 886061536 MedGen:CN043606 6 47624723 47624731 ATATATATA GTGTG 300490 indel NM_012120.2(CD2AP):c.*496_*504delATATATATAinsGTGTG 886061536 MedGen:CN043606 6 47592459 47592467 ATATATATA GTGTG 300493 single nucleotide variant NM_012120.2(CD2AP):c.*500A>G 35361796 MedGen:CN043606 6 47624727 47624727 A G 300493 single nucleotide variant NM_012120.2(CD2AP):c.*500A>G 35361796 MedGen:CN043606 6 47592463 47592463 A G 300500 single nucleotide variant NM_012120.2(CD2AP):c.*1927T>G 886061543 MedGen:CN043606 6 47626154 47626154 T G 300500 single nucleotide variant NM_012120.2(CD2AP):c.*1927T>G 886061543 MedGen:CN043606 6 47593890 47593890 T G 300503 single nucleotide variant NM_012120.2(CD2AP):c.*2241A>T 151064033 MedGen:CN043606 6 47626468 47626468 A T 300503 single nucleotide variant NM_012120.2(CD2AP):c.*2241A>T 151064033 MedGen:CN043606 6 47594204 47594204 A T 300504 single nucleotide variant NM_012120.2(CD2AP):c.*2339T>C 2152796 MedGen:CN043606 6 47626566 47626566 T C 300504 single nucleotide variant NM_012120.2(CD2AP):c.*2339T>C 2152796 MedGen:CN043606 6 47594302 47594302 T C 300505 single nucleotide variant NM_012120.2(CD2AP):c.*2355G>A 141029774 MedGen:CN043606 6 47626582 47626582 G A 300505 single nucleotide variant NM_012120.2(CD2AP):c.*2355G>A 141029774 MedGen:CN043606 6 47594318 47594318 G A 300510 single nucleotide variant NM_012120.2(CD2AP):c.*2705A>G 775329134 MedGen:CN043606 6 47594668 47594668 A G 300510 single nucleotide variant NM_012120.2(CD2AP):c.*2705A>G 775329134 MedGen:CN043606 6 47626932 47626932 A G 303302 single nucleotide variant NM_012120.2(CD2AP):c.-324G>C 886061512 MedGen:CN043606 6 47477921 47477921 G C 303302 single nucleotide variant NM_012120.2(CD2AP):c.-324G>C 886061512 MedGen:CN043606 6 47445657 47445657 G C 303309 single nucleotide variant NM_012120.2(CD2AP):c.-267G>A 532229799 MedGen:CN043606 6 47477978 47477978 G A 303309 single nucleotide variant NM_012120.2(CD2AP):c.-267G>A 532229799 MedGen:CN043606 6 47445714 47445714 G A 303310 single nucleotide variant NM_012120.2(CD2AP):c.-191G>A 886061514 MedGen:CN043606 6 47478054 47478054 G A 303310 single nucleotide variant NM_012120.2(CD2AP):c.-191G>A 886061514 MedGen:CN043606 6 47445790 47445790 G A 303316 deletion NM_012120.2(CD2AP):c.-167_-165delGAG 886061515 MedGen:CN043606 6 47478078 47478080 GAG - 303316 deletion NM_012120.2(CD2AP):c.-167_-165delGAG 886061515 MedGen:CN043606 6 47445814 47445816 GAG - 303319 single nucleotide variant NM_012120.2(CD2AP):c.401T>A (p.Ile134Asn) 886061519 MedGen:CN043606 6 47544687 47544687 T A 303319 single nucleotide variant NM_012120.2(CD2AP):c.401T>A (p.Ile134Asn) 886061519 MedGen:CN043606 6 47512423 47512423 T A 303329 single nucleotide variant NM_012120.2(CD2AP):c.992T>A (p.Leu331His) 140188898 MedGen:CN043606 6 47547209 47547209 T A 303329 single nucleotide variant NM_012120.2(CD2AP):c.992T>A (p.Leu331His) 140188898 MedGen:CN043606 6 47579473 47579473 T A 303331 single nucleotide variant NM_012120.2(CD2AP):c.*319A>C 532632702 MedGen:CN043606 6 47624546 47624546 A C 303331 single nucleotide variant NM_012120.2(CD2AP):c.*319A>C 532632702 MedGen:CN043606 6 47592282 47592282 A C 303334 deletion NM_012120.2(CD2AP):c.*494_*499delGTATAT 886061530 MedGen:CN043606 6 47624721 47624726 GTATAT - 303334 deletion NM_012120.2(CD2AP):c.*494_*499delGTATAT 886061530 MedGen:CN043606 6 47592457 47592462 GTATAT - 303337 indel NM_012120.2(CD2AP):c.*496_*502delATATATAinsGTGTGTGTGTG 886061535 MedGen:CN043606 6 47624723 47624729 ATATATA GTGTGTGTGTG 303337 indel NM_012120.2(CD2AP):c.*496_*502delATATATAinsGTGTGTGTGTG 886061535 MedGen:CN043606 6 47592459 47592465 ATATATA GTGTGTGTGTG 303339 indel NM_012120.2(CD2AP):c.*496delAinsGTGTGTGTG 886061534 MedGen:CN043606 6 47624723 47624723 A GTGTGTGTG 303339 indel NM_012120.2(CD2AP):c.*496delAinsGTGTGTGTG 886061534 MedGen:CN043606 6 47592459 47592459 A GTGTGTGTG 303341 indel NM_012120.2(CD2AP):c.*496delAinsGTGTGTGTGTG 886061534 MedGen:CN043606 6 47624723 47624723 A GTGTGTGTGTG 303341 indel NM_012120.2(CD2AP):c.*496delAinsGTGTGTGTGTG 886061534 MedGen:CN043606 6 47592459 47592459 A GTGTGTGTGTG 303360 indel NM_012120.2(CD2AP):c.*496delAinsGTGTGTGTGTGTG 886061534 MedGen:CN043606 6 47624723 47624723 A GTGTGTGTGTGTG 303360 indel NM_012120.2(CD2AP):c.*496delAinsGTGTGTGTGTGTG 886061534 MedGen:CN043606 6 47592459 47592459 A GTGTGTGTGTGTG 303361 single nucleotide variant NM_012120.2(CD2AP):c.*498A>G 36077218 MedGen:CN043606 6 47624725 47624725 A G 303361 single nucleotide variant NM_012120.2(CD2AP):c.*498A>G 36077218 MedGen:CN043606 6 47592461 47592461 A G 303362 single nucleotide variant NM_012120.2(CD2AP):c.*707G>A 886061538 MedGen:CN043606 6 47624934 47624934 G A 303362 single nucleotide variant NM_012120.2(CD2AP):c.*707G>A 886061538 MedGen:CN043606 6 47592670 47592670 G A 303364 single nucleotide variant NM_012120.2(CD2AP):c.*1208C>A 28403574 MedGen:CN043606 6 47593171 47593171 C A 303364 single nucleotide variant NM_012120.2(CD2AP):c.*1208C>A 28403574 MedGen:CN043606 6 47625435 47625435 C A 303367 duplication NM_012120.2(CD2AP):c.*1430dupT 886061540 MedGen:CN043606 6 47593393 47593393 T TT 303367 duplication NM_012120.2(CD2AP):c.*1430dupT 886061540 MedGen:CN043606 6 47625657 47625657 T TT 303368 deletion NM_012120.2(CD2AP):c.*1466delA 886061541 MedGen:CN043606 6 47593429 47593429 A - 303368 deletion NM_012120.2(CD2AP):c.*1466delA 886061541 MedGen:CN043606 6 47625693 47625693 A - 303369 single nucleotide variant NM_012120.2(CD2AP):c.*1606G>A 886061542 MedGen:CN043606 6 47625833 47625833 G A 303369 single nucleotide variant NM_012120.2(CD2AP):c.*1606G>A 886061542 MedGen:CN043606 6 47593569 47593569 G A 307787 single nucleotide variant NM_012120.2(CD2AP):c.-441C>A 111766401 MedGen:CN043606 6 47477804 47477804 C A 307787 single nucleotide variant NM_012120.2(CD2AP):c.-441C>A 111766401 MedGen:CN043606 6 47445540 47445540 C A 307805 single nucleotide variant NM_012120.2(CD2AP):c.-197C>T 886061513 MedGen:CN043606 6 47478048 47478048 C T 307805 single nucleotide variant NM_012120.2(CD2AP):c.-197C>T 886061513 MedGen:CN043606 6 47445784 47445784 C T 307806 insertion NM_012120.2(CD2AP):c.-55_-54insAGG 560930115 MedGen:CN043606 6 47478190 47478191 - AGG 307806 insertion NM_012120.2(CD2AP):c.-55_-54insAGG 560930115 MedGen:CN043606 6 47445926 47445927 - AGG 307807 duplication NM_012120.2(CD2AP):c.-4dupC 886061517 MedGen:CN043606 6 47478241 47478241 C CC 307807 duplication NM_012120.2(CD2AP):c.-4dupC 886061517 MedGen:CN043606 6 47445977 47445977 C CC 307812 single nucleotide variant NM_012120.2(CD2AP):c.400A>G (p.Ile134Val) 747832531 MedGen:CN043606 6 47544686 47544686 A G 307812 single nucleotide variant NM_012120.2(CD2AP):c.400A>G (p.Ile134Val) 747832531 MedGen:CN043606 6 47512422 47512422 A G 307819 single nucleotide variant NM_012120.2(CD2AP):c.553G>T (p.Ala185Ser) 142643033 MedGen:CN043606 6 47541811 47541811 G T 307819 single nucleotide variant NM_012120.2(CD2AP):c.553G>T (p.Ala185Ser) 142643033 MedGen:CN043606 6 47574075 47574075 G T 307820 single nucleotide variant NM_012120.2(CD2AP):c.1181C>A (p.Pro394Gln) 141881558 MedGen:CN043606 6 47563669 47563669 C A 307820 single nucleotide variant NM_012120.2(CD2AP):c.1181C>A (p.Pro394Gln) 141881558 MedGen:CN043606 6 47595933 47595933 C A 307826 single nucleotide variant NM_012120.2(CD2AP):c.1531-15T>A 200506346 MedGen:CN043606 6 47607912 47607912 T A 307826 single nucleotide variant NM_012120.2(CD2AP):c.1531-15T>A 200506346 MedGen:CN043606 6 47575648 47575648 T A 307827 deletion NM_012120.2(CD2AP):c.1575_1577delAGA (p.Glu525del) 886061521 MedGen:CN043606 6 47607971 47607973 AGA - 307827 deletion NM_012120.2(CD2AP):c.1575_1577delAGA (p.Glu525del) 886061521 MedGen:CN043606 6 47575707 47575709 AGA - 307842 single nucleotide variant NM_012120.2(CD2AP):c.1651A>G (p.Thr551Ala) 200024855 MedGen:CN043606 6 47576877 47576877 A G 307842 single nucleotide variant NM_012120.2(CD2AP):c.1651A>G (p.Thr551Ala) 200024855 MedGen:CN043606 6 47609141 47609141 A G 307843 single nucleotide variant NM_012120.2(CD2AP):c.*186A>T 9381582 MedGen:CN043606 6 47624413 47624413 A T 307843 single nucleotide variant NM_012120.2(CD2AP):c.*186A>T 9381582 MedGen:CN043606 6 47592149 47592149 A T 307844 duplication NM_012120.2(CD2AP):c.*490_*495dupGTGTGT 886061525 MedGen:CN043606 6 47624717 47624722 GTGTGT GTGTGTGTGTGT 307844 duplication NM_012120.2(CD2AP):c.*490_*495dupGTGTGT 886061525 MedGen:CN043606 6 47592453 47592458 GTGTGT GTGTGTGTGTGT 307849 deletion NM_012120.2(CD2AP):c.*492_*495delGTGT 60486147 MedGen:CN043606 6 47624719 47624722 GTGT - 307849 deletion NM_012120.2(CD2AP):c.*492_*495delGTGT 60486147 MedGen:CN043606 6 47592455 47592458 GTGT - 307850 duplication NM_012120.2(CD2AP):c.*494_*495dupGT 886061525 MedGen:CN043606 6 47624721 47624722 GT GTGT 307850 duplication NM_012120.2(CD2AP):c.*494_*495dupGT 886061525 MedGen:CN043606 6 47592457 47592458 GT GTGT 307851 insertion NM_012120.2(CD2AP):c.*495_*496insGTGTAT 886061525 MedGen:CN043606 6 47624722 47624723 - GTGTAT 307851 insertion NM_012120.2(CD2AP):c.*495_*496insGTGTAT 886061525 MedGen:CN043606 6 47592458 47592459 - GTGTAT 307874 single nucleotide variant NM_012120.2(CD2AP):c.*502A>G 35274349 MedGen:CN043606 6 47624729 47624729 A G 307874 single nucleotide variant NM_012120.2(CD2AP):c.*502A>G 35274349 MedGen:CN043606 6 47592465 47592465 A G 307878 deletion NM_012120.2(CD2AP):c.*506_*511delATATAT 886061533 MedGen:CN043606 6 47624733 47624738 ATATAT - 307878 deletion NM_012120.2(CD2AP):c.*506_*511delATATAT 886061533 MedGen:CN043606 6 47592469 47592474 ATATAT - 307879 deletion NM_012120.2(CD2AP):c.*510_*511delAT 886061532 MedGen:CN043606 6 47624737 47624738 AT - 307879 deletion NM_012120.2(CD2AP):c.*510_*511delAT 886061532 MedGen:CN043606 6 47592473 47592474 AT - 307880 single nucleotide variant NM_012120.2(CD2AP):c.*652A>G 886061537 MedGen:CN043606 6 47624879 47624879 A G 307880 single nucleotide variant NM_012120.2(CD2AP):c.*652A>G 886061537 MedGen:CN043606 6 47592615 47592615 A G 307893 single nucleotide variant NM_012120.2(CD2AP):c.*866C>T 886061539 MedGen:CN043606 6 47592829 47592829 C T 307893 single nucleotide variant NM_012120.2(CD2AP):c.*866C>T 886061539 MedGen:CN043606 6 47625093 47625093 C T 307894 single nucleotide variant NM_012120.2(CD2AP):c.*2118T>A 886061546 MedGen:CN043606 6 47626345 47626345 T A 307894 single nucleotide variant NM_012120.2(CD2AP):c.*2118T>A 886061546 MedGen:CN043606 6 47594081 47594081 T A 307895 duplication NM_012120.2(CD2AP):c.*2228dupT 886061547 MedGen:CN043606 6 47626455 47626455 T TT 307895 duplication NM_012120.2(CD2AP):c.*2228dupT 886061547 MedGen:CN043606 6 47594191 47594191 T TT 307901 single nucleotide variant NM_012120.2(CD2AP):c.*2232C>T 886061548 MedGen:CN043606 6 47626459 47626459 C T 307901 single nucleotide variant NM_012120.2(CD2AP):c.*2232C>T 886061548 MedGen:CN043606 6 47594195 47594195 C T 307902 single nucleotide variant NM_012120.2(CD2AP):c.*2445C>T 886061550 MedGen:CN043606 6 47626672 47626672 C T 307902 single nucleotide variant NM_012120.2(CD2AP):c.*2445C>T 886061550 MedGen:CN043606 6 47594408 47594408 C T 307910 single nucleotide variant NM_012120.2(CD2AP):c.*2449C>A 878891637 MedGen:CN043606 6 47626676 47626676 C A 307910 single nucleotide variant NM_012120.2(CD2AP):c.*2449C>A 878891637 MedGen:CN043606 6 47594412 47594412 C A 307913 single nucleotide variant NM_012120.2(CD2AP):c.*2759G>A 719856 MedGen:CN043606 6 47626986 47626986 G A 307913 single nucleotide variant NM_012120.2(CD2AP):c.*2759G>A 719856 MedGen:CN043606 6 47594722 47594722 G A 307973 single nucleotide variant NM_012120.2(CD2AP):c.-438C>T 191920077 MedGen:CN043606 6 47477807 47477807 C T 307973 single nucleotide variant NM_012120.2(CD2AP):c.-438C>T 191920077 MedGen:CN043606 6 47445543 47445543 C T 307977 single nucleotide variant NM_012120.2(CD2AP):c.-329C>T 886061511 MedGen:CN043606 6 47477916 47477916 C T 307977 single nucleotide variant NM_012120.2(CD2AP):c.-329C>T 886061511 MedGen:CN043606 6 47445652 47445652 C T 307982 single nucleotide variant NM_012120.2(CD2AP):c.-130C>G 886061516 MedGen:CN043606 6 47478115 47478115 C G 307982 single nucleotide variant NM_012120.2(CD2AP):c.-130C>G 886061516 MedGen:CN043606 6 47445851 47445851 C G 307991 single nucleotide variant NM_012120.2(CD2AP):c.-54T>A 9349406 MedGen:CN043606 6 47478191 47478191 T A 307991 single nucleotide variant NM_012120.2(CD2AP):c.-54T>A 9349406 MedGen:CN043606 6 47445927 47445927 T A 307996 single nucleotide variant NM_012120.2(CD2AP):c.682C>T (p.Arg228Trp) 150851309 MedGen:CN043606 6 47574204 47574204 C T 307996 single nucleotide variant NM_012120.2(CD2AP):c.682C>T (p.Arg228Trp) 150851309 MedGen:CN043606 6 47541940 47541940 C T 307998 single nucleotide variant NM_012120.2(CD2AP):c.1633-6T>A 886061522 MedGen:CN043606 6 47609117 47609117 T A 307998 single nucleotide variant NM_012120.2(CD2AP):c.1633-6T>A 886061522 MedGen:CN043606 6 47576853 47576853 T A 307999 single nucleotide variant NM_012120.2(CD2AP):c.*20C>G 149303011 MedGen:CN043606 6 47624247 47624247 C G 307999 single nucleotide variant NM_012120.2(CD2AP):c.*20C>G 149303011 MedGen:CN043606 6 47591983 47591983 C G 308000 insertion NM_012120.2(CD2AP):c.*451_*452insGT 886061523 MedGen:CN043606 6 47624678 47624679 - GT 308000 insertion NM_012120.2(CD2AP):c.*451_*452insGT 886061523 MedGen:CN043606 6 47592414 47592415 - GT 308001 single nucleotide variant NM_012120.2(CD2AP):c.*452C>G 183129840 MedGen:CN043606 6 47624679 47624679 C G 308001 single nucleotide variant NM_012120.2(CD2AP):c.*452C>G 183129840 MedGen:CN043606 6 47592415 47592415 C G 308002 deletion NM_012120.2(CD2AP):c.*452_*455delCTGT 886061524 MedGen:CN043606 6 47624679 47624682 CTGT - 308002 deletion NM_012120.2(CD2AP):c.*452_*455delCTGT 886061524 MedGen:CN043606 6 47592415 47592418 CTGT - 308025 single nucleotide variant NM_012120.2(CD2AP):c.*490G>A 886061528 MedGen:CN043606 6 47624717 47624717 G A 308025 single nucleotide variant NM_012120.2(CD2AP):c.*490G>A 886061528 MedGen:CN043606 6 47592453 47592453 G A 308028 duplication NM_012120.2(CD2AP):c.*492_*495dupGTGT 886061525 MedGen:CN043606 6 47624719 47624722 GTGT GTGTGTGT 308028 duplication NM_012120.2(CD2AP):c.*492_*495dupGTGT 886061525 MedGen:CN043606 6 47592455 47592458 GTGT GTGTGTGT 308029 single nucleotide variant NM_012120.2(CD2AP):c.*494G>A 867559785 MedGen:CN043606 6 47624721 47624721 G A 308029 single nucleotide variant NM_012120.2(CD2AP):c.*494G>A 867559785 MedGen:CN043606 6 47592457 47592457 G A 308030 deletion NM_012120.2(CD2AP):c.*494_*495delGT 886061526 MedGen:CN043606 6 47624721 47624722 GT - 308030 deletion NM_012120.2(CD2AP):c.*494_*495delGT 886061526 MedGen:CN043606 6 47592457 47592458 GT - 308031 deletion NM_012120.2(CD2AP):c.*494_*503delGTATATATAT 886061531 MedGen:CN043606 6 47624721 47624730 GTATATATAT - 308031 deletion NM_012120.2(CD2AP):c.*494_*503delGTATATATAT 886061531 MedGen:CN043606 6 47592457 47592466 GTATATATAT - 308033 insertion NM_012120.2(CD2AP):c.*495_*496insGTAT 886061525 MedGen:CN043606 6 47624722 47624723 - GTAT 308033 insertion NM_012120.2(CD2AP):c.*495_*496insGTAT 886061525 MedGen:CN043606 6 47592458 47592459 - GTAT 308034 single nucleotide variant NM_012120.2(CD2AP):c.*828G>C 187393492 MedGen:CN043606 6 47592791 47592791 G C 308034 single nucleotide variant NM_012120.2(CD2AP):c.*828G>C 187393492 MedGen:CN043606 6 47625055 47625055 G C 308035 single nucleotide variant NM_012120.2(CD2AP):c.*2037C>G 886061544 MedGen:CN043606 6 47626264 47626264 C G 308035 single nucleotide variant NM_012120.2(CD2AP):c.*2037C>G 886061544 MedGen:CN043606 6 47594000 47594000 C G 308038 single nucleotide variant NM_012120.2(CD2AP):c.*2039T>C 1043276 MedGen:CN043606 6 47626266 47626266 T C 308038 single nucleotide variant NM_012120.2(CD2AP):c.*2039T>C 1043276 MedGen:CN043606 6 47594002 47594002 T C 308040 deletion NM_012120.2(CD2AP):c.*2116_*2118delTCT 886061545 MedGen:CN043606 6 47626343 47626345 TCT - 308040 deletion NM_012120.2(CD2AP):c.*2116_*2118delTCT 886061545 MedGen:CN043606 6 47594079 47594081 TCT - 308050 single nucleotide variant NM_012120.2(CD2AP):c.*2369G>A 886061549 MedGen:CN043606 6 47626596 47626596 G A 308050 single nucleotide variant NM_012120.2(CD2AP):c.*2369G>A 886061549 MedGen:CN043606 6 47594332 47594332 G A 353794 single nucleotide variant NM_012120.2(CD2AP):c.*3047G>A 116607853 MedGen:CN043606 6 47627274 47627274 G A 353794 single nucleotide variant NM_012120.2(CD2AP):c.*3047G>A 116607853 MedGen:CN043606 6 47595010 47595010 G 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 6 47445017 rs1004173 C T rs1004173 2.03E-05 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 C nearGene-5 GWASdb_trait 6 47447041 rs4715019 T A rs4715019 1.19E-05 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 T intron GWASdb_trait 6 47448336 rs9367279 A G rs9367279 1.31E-05 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 A intron GWASdb_trait 6 47451883 rs9296558 C T rs9296558 1.29E-05 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 C,T intron GWASdb_trait 6 47452270 rs9296559 T C rs9296559 4.26E-05 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 T intron GWASdb_trait 6 47453378 rs9349407 G C rs9349407 9.00E-09 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 G intron GWASdb_trait 6 47453378 rs9349407 G C rs9349407 8.60E-09 Prion diseases HPOID:0004429 DOID:649 G intron GWASdb_trait 6 47469273 rs7738044 A G rs7738044 1.33E-05 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 A intron GWASdb_trait 6 47480975 rs1872505 C G rs1872505 1.36E-05 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 G intron GWASdb_trait 6 47482456 rs17289198 C T rs17289198 6.81E-04 Alzheimer's disease HPOID:0002511 DOID:10652 C intron GWASdb_trait 6 47483653 rs4715025 C G rs4715025 1.40E-05 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 C intron GWASdb_trait 6 47487762 rs10948363 A G rs10948363 1.60E-05 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 A intron GWASdb_trait 6 47487762 rs10948363 A G rs10948363 5.00E-11 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 A intron GWASdb_trait 6 47488938 rs9296561 G A rs9296561 1.89E-05 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 G intron GWASdb_trait 6 47493940 rs7749167 G A rs7749167 2.05E-05 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 G intron GWASdb_trait 6 47502024 rs7754282 G C rs7754282 2.09E-05 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 G intron GWASdb_trait 6 47504513 rs17289226 A G rs17289226 6.72E-04 Alzheimer's disease HPOID:0002511 DOID:10652 A intron GWASdb_trait 6 47511491 rs9349413 A G rs9349413 2.13E-05 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 A intron GWASdb_trait 6 47528817 rs4715031 T G rs4715031 4.99E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 6 47549126 rs9296566 C T rs9296566 2.27E-04 Bone mass and geometry HPOID:0011842 DOID:9970|DOID:114 C intron GWASdb_trait 6 47551444 rs9395283 T C rs9395283 1.99E-05 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 T intron GWASdb_trait 6 47551938 rs9349416 G A rs9349416 1.98E-05 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 G intron GWASdb_trait 6 47552180 rs9369716 A T rs9369716 1.97E-05 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 A intron GWASdb_trait 6 47554177 rs9395285 G A rs9395285 1.95E-05 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 G intron GWASdb_trait 6 47554468 rs9369717 T G rs9369717 1.95E-05 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 T intron GWASdb_trait 6 47556630 rs1485780 A C rs1485780 1.97E-05 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 A intron GWASdb_trait 6 47556634 rs9381578 C T rs9381578 1.93E-05 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 C intron GWASdb_trait 6 47568696 rs2396825 A G rs2396825 1.94E-05 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 A intron GWASdb_trait 6 47575332 rs9395286 T C rs9395286 1.88E-05 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 T intron GWASdb_trait 6 47585615 rs10948367 A G rs10948367 1.81E-05 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 A intron GWASdb_trait 6 47590104 rs2171086 C T rs2171086 1.77E-05 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 G intron GWASdb_trait 6 47594722 rs719856 G A rs719856 1.21E-05 Blood Pressure and Arterial Stiffness HPOID:0011025|HPOID:0002634 DOID:2349|DOID:10763 C UTR-3 GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000198087.7 CD2AP 604241