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
RS1588070867 ZNF462 Health Risk Pathogenic Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
RS1588070986 FANCC Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1588073071 ZNF462 Health Risk Pathogenic Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
RS1588080674 TJP2 Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS1588080680 TJP2 Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS1588081022 TJP2 Health Risk Likely pathogenic Cholestasis, progressive familial intrahepatic
RS1588095580 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1588101086 FANCC Health Risk Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS1588104877 PAX5 Health Risk Likely pathogenic Acute lymphoid leukemia, Acute lymphoid leukemia
RS1588110929 FKTN Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS1588112379 FKTN Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS1588117076 TJP2 Health Risk Likely pathogenic Cholestasis, progressive familial intrahepatic
RS1588119681 KMT2C Health Risk Likely pathogenic Kleefstra syndrome 2, Kleefstra syndrome 2
RS1588121150 LRSAM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS1588127136 TJP2 Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS1588131370 FREM1 Health Risk Pathogenic BNAR syndrome, Oculotrichoanal syndrome
RS1588132672 LRSAM1 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS1588134180 FANCC Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group C
RS1588134571 FANCC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group C
RS1588134748 FANCC Health Risk Likely pathogenic Fanconi anemia, Hereditary cancer-predisposing syndrome
RS1588135086 TJP2 Health Risk Likely pathogenic Cholestasis, progressive familial intrahepatic
RS1588136019 ZNF462 Health Risk Likely pathogenic Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
RS1588136441 FKTN Health Risk Likely pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS1588141902 TPK1 Health Risk Likely pathogenic —
RS1588143112 LRSAM1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2P
RS1588143215 LRSAM1 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS1588144707 LRSAM1 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS1588145141 INVS Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS1588153872 INVS Health Risk Likely pathogenic Infantile nephronophthisis, Infantile nephronophthisis
RS1588169651 GABBR2 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Neurodevelopmental disorder with poor language and loss of hand skills
RS1588171883 LAMC3 Health Risk Likely pathogenic —
RS1588198044 ADAMTS13 Health Risk Pathogenic Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS1588200023 CRB2 Health Risk Likely pathogenic Focal segmental glomerulosclerosis 9, Focal segmental glomerulosclerosis 9
RS1588216753 NDRG1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease type 4D
RS1588218453 TRIM32 Health Risk Pathogenic/Likely pathogenic Sarcotubular myopathy, Bardet-Biedl syndrome 11
RS1588218493 FANCC Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Hereditary cancer-predisposing syndrome
RS1588220728 FANCC Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group C, Hereditary cancer-predisposing syndrome
RS1588220764 FANCC Health Risk Pathogenic Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS1588222602 FKTN Health Risk Pathogenic/Likely pathogenic Walker-Warburg congenital muscular dystrophy, Dilated cardiomyopathy 1X
RS1588222870 FKTN Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS1588236381 GABBR2 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS1588253471 NFIB Health Risk Pathogenic/Likely pathogenic Macrocephaly, acquired
RS1588255313 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS1588257904 LMX1B Health Risk Pathogenic Nail-patella syndrome, Nail-patella syndrome
RS1588263957 AGPAT2 Health Risk Pathogenic/Likely pathogenic Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1
RS1588269791 TUBB8 Health Risk Likely pathogenic Oocyte maturation defect 2, Oocyte maturation defect 2
RS1588270041 NUP188 Health Risk Likely pathogenic Sandestig-stefanova syndrome, Sandestig-stefanova syndrome
RS1588270347 TUBB8 Health Risk Likely pathogenic Oocyte maturation defect 2, Oocyte maturation defect 2
RS1588287475 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Tuberous sclerosis 1
RS1588287783 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1588290078 TSC1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS1588290111 TSC1 Health Risk Likely pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1588290641 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1588290658 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1588291118 TSC1 Health Risk Pathogenic —
RS1588294498 STXBP1 Health Risk Pathogenic Intellectual disability, Spasticity
RS1588295226 TRAPPC9 Health Risk Likely pathogenic —
RS1588297391 TSC1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS1588298866 TSC1 Health Risk Likely pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1588299158 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis syndrome
RS1588299201 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1588299621 RXRA Health Risk Likely pathogenic Multiple myeloma, Multiple myeloma
RS1588301269 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1588301374 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1588301951 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1588302912 STXBP1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 4
RS1588303890 TSC1 Health Risk Pathogenic —
RS1588303969 TSC1 Health Risk Pathogenic —
RS1588304158 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS1588306826 STXBP1 Health Risk Pathogenic —
RS1588306876 STXBP1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 4
RS1588306948 STXBP1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 4
RS1588307140 LMX1B Health Risk Pathogenic Nail-patella syndrome, Nail-patella-like renal disease
RS1588307152 LMX1B Health Risk Pathogenic Nail-patella syndrome, Nail-patella syndrome
RS1588307460 LMX1B Health Risk Pathogenic Nail-patella syndrome, Nail-patella syndrome
RS1588307464 LMX1B Health Risk Pathogenic/Likely pathogenic Nail-patella syndrome, Nail-patella syndrome
RS1588307477 LMX1B Health Risk Pathogenic Nail-patella syndrome, Nail-patella syndrome
RS1588307482 LMX1B Health Risk Likely pathogenic Nail-patella syndrome, Nail-patella syndrome
RS1588307486 LMX1B Health Risk Pathogenic Nail-patella syndrome, Nail-patella syndrome
RS1588307501 LMX1B Health Risk Pathogenic Nail-patella syndrome, Nail-patella syndrome
RS1588308756 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1588309025 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1588309269 LMX1B Health Risk Pathogenic Nail-patella syndrome, Nail-patella syndrome
RS1588309277 LMX1B Health Risk Likely pathogenic Nail-patella syndrome, Nail-patella syndrome
RS1588309293 LMX1B Health Risk Pathogenic Nail-patella syndrome, Nail-patella syndrome
RS1588309702 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Lymphangiomyomatosis
RS1588310754 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Malignant tumor of urinary bladder
RS1588311354 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Tuberous sclerosis syndrome
RS1588312765 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1588313568 STXBP1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1588315166 FKTN Health Risk Pathogenic/Likely pathogenic Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype
RS1588317190 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS1588321344 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1588322764 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1588323218 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1588324025 STXBP1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 4
RS1588324071 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS1588324106 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1588324435 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1588324568 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
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