SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS80338867 WASHC5 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 8, Hereditary spastic paraplegia
RS80338869 SPG11 Health Risk Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia
RS80338877 TFR2 Health Risk Pathogenic Hemochromatosis type 3, Hereditary hemochromatosis
RS80338878 TFR2 Health Risk Pathogenic/Likely pathogenic Hemochromatosis type 3, Hereditary hemochromatosis
RS80338879 TFR2 Health Risk Pathogenic Hemochromatosis type 3, Hereditary hemochromatosis
RS80338880 TFR2 Health Risk Pathogenic Hemochromatosis type 3, Hemochromatosis type 3
RS80338882 TFR2 Health Risk Pathogenic Hemochromatosis type 3, Hereditary hemochromatosis
RS80338883 TFR2 Health Risk Likely pathogenic Hemochromatosis type 3, Hemochromatosis type 3
RS80338884 TFR2 Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 3, Hemochromatosis type 3
RS80338885 TFR2 Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 3, Hereditary hemochromatosis
RS80338888 TFR2 Health Risk Pathogenic/Likely pathogenic Hemochromatosis type 3, Hereditary hemochromatosis
RS80338889 TFR2 Health Risk Pathogenic Hemochromatosis type 3, Hemochromatosis type 3
RS80338890 TFR2 Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 3, Hereditary hemochromatosis
RS80338891 TFR2 Health Risk Likely pathogenic Hemochromatosis type 3, Hereditary hemochromatosis
RS80338892 TH Health Risk Pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS80338894 FAH Health Risk Pathogenic Tyrosinemia type I, Tyrosinemia type II
RS80338895 FAH Health Risk Pathogenic Tyrosinemia type I, FAH-related disorder
RS80338896 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS80338897 FAH Health Risk Pathogenic Tyrosinemia type I, Tyrosinemia type I
RS80338898 FAH Health Risk Pathogenic/Likely pathogenic Tyrosinemia type I, FAH-related disorder
RS80338899 FAH Health Risk Pathogenic Tyrosinemia type I, Tyrosinemia type I
RS80338900 FAH Health Risk Pathogenic Tyrosinemia type I, Tyrosinemia type I
RS80338901 FAH Health Risk Pathogenic/Likely pathogenic Tyrosinemia type I, FAH-related disorder
RS80338902 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa
RS80338903 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa
RS80338904 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa
RS80338905 VLDLR Health Risk Pathogenic Cerebellar ataxia, intellectual disability
RS80338906 VLDLR Health Risk Pathogenic Cerebellar ataxia, intellectual disability
RS80338907 VLDLR Health Risk Pathogenic Cerebellar ataxia, intellectual disability
RS80338908 TEK Health Risk Pathogenic Multiple cutaneous and mucosal venous malformations, Segmental undergrowth associated with venous malformation without capillary component
RS80338909 TEK Health Risk Pathogenic Multiple cutaneous and mucosal venous malformations, Blue rubber bleb nevus
RS80338910 TFAP2B Health Risk Pathogenic Char syndrome, Char syndrome
RS80338911 TFAP2B Health Risk Pathogenic Char syndrome, Patent ductus arteriosus 2
RS80338912 TFAP2B Health Risk Pathogenic Char syndrome, Char syndrome
RS80338914 TFAP2B Health Risk Pathogenic Char syndrome, Char syndrome
RS80338915 TFAP2B Health Risk Pathogenic/Likely pathogenic Char syndrome, Char syndrome
RS80338917 TFAP2B Health Risk Likely pathogenic Char syndrome, Char syndrome
RS80338920 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease
RS80338921 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4
RS80338922 SH3TC2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease
RS80338923 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4
RS80338924 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4C
RS80338925 SH3TC2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4
RS80338926 SH3TC2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4
RS80338929 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4
RS80338930 SH3TC2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4
RS80338931 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4
RS80338932 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4
RS80338933 SH3TC2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve
RS80338934 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4
RS80338936 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4C
RS80338937 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4C
RS80338938 LMNA Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1A, Charcot-Marie-Tooth disease type 2
RS80338939 GJB2 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 1A, Deafness
RS80338940 GJB2 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 1A, Hearing impairment
RS80338941 GJB2 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 1A, Rare genetic deafness
RS80338942 GJB2 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 1A, Hearing impairment
RS80338943 GJB2 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 1A, Deafness
RS80338944 GJB2 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 1A, Rare genetic deafness
RS80338945 GJB2 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 1A, Hearing impairment
RS80338947 GJB2 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 1A, Hearing impairment
RS80338948 GJB2 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 1A, Hearing impairment
RS80338949 GJB2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 1A, Nonsyndromic genetic hearing loss
RS80338950 GJB2 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 1A, Rare genetic deafness
RS80338955 SCN4A Health Risk Pathogenic/Likely pathogenic Hyperkalemic periodic paralysis, Paramyotonia congenita of Von Eulenburg
RS80338956 SCN4A Health Risk Likely pathogenic Paramyotonia congenita of Von Eulenburg, Hyperkalemic periodic paralysis
RS80338957 SCN4A Health Risk Pathogenic/Likely pathogenic Hyperkalemic periodic paralysis, Paramyotonia congenita/hyperkalemic periodic paralysis
RS80338958 SCN4A Health Risk Pathogenic/Likely pathogenic Paramyotonia congenita/hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS80338959 SCN4A Health Risk Pathogenic/Likely pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS80338960 SCN4A Health Risk Pathogenic/Likely pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS80338962 SCN4A Health Risk Pathogenic Hyperkalemic periodic paralysis, Paramyotonia congenita/hyperkalemic periodic paralysis
RS80338963 SMAD4 Health Risk Pathogenic Generalized juvenile polyposis/juvenile polyposis coli, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
RS80338964 SMAD4 Health Risk Pathogenic Generalized juvenile polyposis/juvenile polyposis coli, Juvenile polyposis syndrome
RS80338965 SMAD4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Generalized juvenile polyposis/juvenile polyposis coli
RS80344633 PDE6B Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa
RS80344795 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS80345158 ALB Health Risk Pathogenic —
RS80356459 SIX1 Health Risk Pathogenic Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23
RS80356460 SIX1 Health Risk Pathogenic/Likely pathogenic Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3
RS80356462 SIX5 Health Risk Conflicting classifications of pathogenicity Branchiootorenal syndrome 2, SIX5-related disorder
RS80356463 SIX5 Health Risk Pathogenic Branchiootorenal syndrome 2, Branchiootorenal syndrome 2
RS80356469 SCN9A Health Risk Pathogenic Primary erythromelalgia, Primary erythromelalgia
RS80356470 SCN9A Health Risk Conflicting classifications of pathogenicity Primary erythromelalgia, Primary erythromelalgia
RS80356471 SCN9A Health Risk Pathogenic/Likely pathogenic SCN9A-related disorder, SCN9A-related disorder
RS80356473 SCN9A Health Risk Likely pathogenic Primary erythromelalgia, Primary erythromelalgia
RS80356474 SCN9A Health Risk Pathogenic Primary erythromelalgia, Acute episodes of neuropathic symptoms
RS80356475 SCN9A Health Risk Pathogenic Primary erythromelalgia, Generalized epilepsy with febrile seizures plus
RS80356476 SCN9A Health Risk Pathogenic Primary erythromelalgia, Primary erythromelalgia
RS80356478 SCN9A Health Risk Pathogenic Primary erythromelalgia, Primary erythromelalgia
RS80356479 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease
RS80356482 G6PC1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease
RS80356483 G6PC1 Health Risk Likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS80356484 G6PC1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Hepatocellular carcinoma
RS80356485 G6PC1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS80356486 G6PC1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS80356487 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease
RS80356488 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease
RS80356489 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS80356490 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glycogen storage disease
RS80356491 SLC37A4 Health Risk Pathogenic Phosphate transport defect, Glucose-6-phosphate transport defect
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