SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS2132475735 PRF1 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS2132475924 PRF1 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS2132476029 PRF1 Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS2132476060 PRF1 Health Risk Pathogenic —
RS2132476381 PRF1 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS2132476466 PRF1 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS2132477884 PRF1 Health Risk Likely pathogenic Autoinflammatory syndrome, Autoinflammatory syndrome
RS2132477913 PRF1 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS2132478434 PRF1 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Autoinflammatory syndrome
RS2132478901 PRF1 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS2132481650 BICC1 Health Risk Pathogenic Renal dysplasia, cystic
RS2132481787 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2132482311 LDB3 Health Risk Pathogenic Myofibrillar myopathy 4, Myofibrillar myopathy 4
RS2132485699 LDB3 Health Risk Pathogenic Myofibrillar myopathy 4, Myofibrillar myopathy 4
RS2132487443 LDB3 Health Risk Pathogenic Myofibrillar myopathy 4, Myofibrillar myopathy 4
RS2132497770 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2132497933 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2132498049 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2132498352 FREM1 Health Risk Likely pathogenic —
RS2132498513 PCDH15 Health Risk Likely pathogenic —
RS2132507580 PCDH15 Health Risk Likely pathogenic —
RS2132508086 GLE1 Health Risk Pathogenic —
RS2132508137 GLE1 Health Risk Pathogenic —
RS2132508266 PCDH15 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1D
RS2132508767 PCDH15 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1D
RS2132509589 GLE1 Health Risk Pathogenic —
RS2132512042 PCDH15 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1F
RS2132514996 CDH23 Health Risk Pathogenic/Likely pathogenic Pituitary adenoma 5, multiple types
RS2132515671 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2132516120 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2132523058 GLE1 Health Risk Likely pathogenic —
RS2132523961 ERCC6 Health Risk Likely pathogenic —
RS2132524052 ERCC6 Health Risk Pathogenic —
RS2132525337 ERCC6 Health Risk Pathogenic —
RS2132531999 GLE1 Health Risk Likely pathogenic —
RS2132532372 DMRT1 Health Risk Likely pathogenic Non-obstructive azoospermia, Non-obstructive azoospermia
RS2132536979 ERCC6 Health Risk Pathogenic —
RS2132537076 ERCC6 Health Risk Pathogenic —
RS2132537171 ERCC6 Health Risk Pathogenic —
RS2132537297 ERCC6 Health Risk Likely pathogenic —
RS2132537341 ERCC6 Health Risk Pathogenic —
RS2132537371 ERCC6 Health Risk Pathogenic —
RS2132537738 ERCC6 Health Risk Pathogenic —
RS2132537968 ERCC6 Health Risk Pathogenic —
RS2132537982 ERCC6 Health Risk Pathogenic —
RS2132538134 ERCC6 Health Risk Pathogenic —
RS2132539413 ERCC6 Health Risk Likely pathogenic —
RS2132540177 ERCC6 Health Risk Pathogenic —
RS2132541141 ERCC6 Health Risk Likely pathogenic —
RS2132541686 ERCC6 Health Risk Likely pathogenic —
RS2132544294 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS2132546827 ERCC6 Health Risk Pathogenic —
RS2132549396 RRM2B Health Risk Conflicting classifications of pathogenicity —
RS2132551765 ERCC6 Health Risk Pathogenic —
RS2132552044 RUSC2 Health Risk Pathogenic —
RS2132552420 RUSC2 Health Risk Pathogenic —
RS2132552521 ERCC6 Health Risk Pathogenic Cockayne syndrome type 2, 7 conditions
RS2132553356 RUSC2 Health Risk Pathogenic —
RS2132555188 RRM2B Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 8a, Rod-cone dystrophy
RS2132555225 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2132555667 CELF2 Health Risk Pathogenic Developmental and epileptic encephalopathy 97, Developmental and epileptic encephalopathy 97
RS2132556658 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS2132556766 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2132565021 ERCC6 Health Risk Pathogenic —
RS2132565119 ERCC6 Health Risk Pathogenic —
RS2132569651 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2132569692 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2132573338 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2132576827 PCDH15 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2132579465 PCDH15 Health Risk Pathogenic —
RS2132580888 PCDH15 Health Risk Likely pathogenic —
RS2132580903 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2132580942 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS2132581038 VPS13B Health Risk Likely pathogenic —
RS2132581182 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2132581276 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2132581325 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2132582100 ERCC6 Health Risk Pathogenic —
RS2132586619 PRDM12 Health Risk Pathogenic Congenital insensitivity to pain-hypohidrosis syndrome, Congenital insensitivity to pain-hypohidrosis syndrome
RS2132588902 PRDM12 Health Risk Pathogenic Congenital insensitivity to pain-hypohidrosis syndrome, Congenital insensitivity to pain-hypohidrosis syndrome
RS2132594619 CDH23 Health Risk Likely pathogenic —
RS2132594628 FKTN Health Risk Likely pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2132594712 CDH23 Health Risk Pathogenic —
RS2132596368 FKTN Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS2132596686 CDH23 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS2132597551 CDH23 Health Risk Pathogenic —
RS2132598205 PCDH15 Health Risk Likely pathogenic Ear malformation, Ear malformation
RS2132603627 FOCAD Health Risk Pathogenic Liver disease, severe congenital
RS2132607877 PRDM12 Health Risk Likely pathogenic Congenital insensitivity to pain-hypohidrosis syndrome, Congenital insensitivity to pain-hypohidrosis syndrome
RS2132608027 PRDM12 Health Risk Conflicting classifications of pathogenicity Congenital insensitivity to pain-hypohidrosis syndrome, Congenital insensitivity to pain-hypohidrosis syndrome
RS2132608070 PRDM12 Health Risk Pathogenic Congenital insensitivity to pain-hypohidrosis syndrome, Congenital insensitivity to pain-hypohidrosis syndrome
RS2132608078 PRDM12 Health Risk Conflicting classifications of pathogenicity Congenital insensitivity to pain-hypohidrosis syndrome, Congenital insensitivity to pain-hypohidrosis syndrome
RS2132621608 ERCC6 Health Risk Pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS2132621652 COL13A1 Health Risk Pathogenic —
RS2132624625 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2132627975 DIP2C Health Risk Likely pathogenic —
RS2132628986 WAC Health Risk Likely pathogenic DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation
RS2132632978 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS2132634562 PCDH15 Health Risk Pathogenic —
RS2132635486 ERCC6 Health Risk Pathogenic —
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