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
RS118203709 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS118203711 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS118203712 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis syndrome
RS118203717 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS118203724 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS118203726 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS118203727 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome
RS118203728 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome
RS118203732 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS118203733 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS118203735 TSC1 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS118203742 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome
RS118203745 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS118203751 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Lymphangiomyomatosis
RS118203753 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS118203888 MT-TS2 Health Risk Likely pathogenic Cerebellar ataxia, cataract
RS118203899 LAMC2 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Epidermolysis bullosa
RS118203900 LAMC2 Health Risk Pathogenic Epidermolysis bullosa, junctional 3B
RS118203901 LAMC2 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa, Epidermolysis bullosa
RS118203903 GIGYF2 Health Risk risk factor Parkinson disease 11, autosomal dominant
RS118203904 GIGYF2 Health Risk risk factor Parkinson disease 11, autosomal dominant
RS118203905 F5 Health Risk Conflicting classifications of pathogenicity Factor V Hong Kong, Thrombophilia due to activated protein C resistance
RS118203906 F5 Health Risk Conflicting classifications of pathogenicity Thrombophilia due to activated protein C resistance, Congenital factor V deficiency
RS118203907 F5 Health Risk Pathogenic/Likely pathogenic Factor V deficiency, Congenital factor V deficiency
RS118203908 F5 Health Risk Pathogenic Factor V deficiency, Factor V deficiency
RS118203909 F5 Health Risk Pathogenic Factor V deficiency, Factor V deficiency
RS118203910 F5 Health Risk Likely pathogenic Factor V deficiency, Factor V deficiency
RS118203911 F5 Health Risk Pathogenic Thrombophilia due to activated protein C resistance, Thrombophilia due to activated protein C resistance
RS118203912 F5 Health Risk Pathogenic Thrombophilia due to activated protein C resistance, Thrombophilia due to activated protein C resistance
RS118203913 RFT1 Health Risk Pathogenic/Likely pathogenic RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation
RS118203914 TAT Health Risk Pathogenic Tyrosinemia type II, Tyrosinemia type II
RS118203915 TAT Health Risk Pathogenic Tyrosinemia type II, Tyrosinemia type II
RS118203916 TAT Health Risk Pathogenic Tyrosinemia type II, Tyrosinemia type II
RS118203917 FASTKD2 Health Risk Pathogenic Mitochondrial complex IV deficiency, nuclear type 1
RS118203918 CILK1 Health Risk Pathogenic Endocrine-cerebro-osteodysplasia syndrome, Endocrine-cerebro-osteodysplasia syndrome
RS1182039209 IFNAR1 Health Risk Conflicting classifications of pathogenicity —
RS118203921 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS118203923 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS118203925 PAH Health Risk Likely pathogenic Hyperphenylalaninemia, Phenylketonuria
RS118203929 NDUFAF5 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 16
RS118203931 CA2 Health Risk Pathogenic CARBONIC ANHYDRASE II VARIANT, CARBONIC ANHYDRASE II VARIANT
RS118203932 CA2 Health Risk Pathogenic CARBONIC ANHYDRASE II VARIANT, CARBONIC ANHYDRASE II VARIANT
RS118203933 CA2 Health Risk Pathogenic Osteopetrosis with renal tubular acidosis, Osteopetrosis with renal tubular acidosis
RS118203934 CA2 Health Risk Pathogenic Osteopetrosis with renal tubular acidosis, Osteopetrosis with renal tubular acidosis
RS118203935 CYP4F22 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 5, Lamellar ichthyosis
RS118203936 CYP4F22 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5
RS118203937 CYP4F22 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 5, Lamellar ichthyosis
RS118203939 ARSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, type vi
RS118203940 ARSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, type vi
RS118203941 ARSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, type vi
RS118203942 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS118203943 ARSB Health Risk Pathogenic Mucopolysaccharidosis type 6, Metachromatic leukodystrophy
RS118203944 ARSB Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS118203945 UBIAD1 Health Risk Pathogenic Schnyder crystalline corneal dystrophy, Schnyder crystalline corneal dystrophy
RS118203946 UBIAD1 Health Risk Pathogenic Schnyder crystalline corneal dystrophy, Schnyder crystalline corneal dystrophy
RS118203947 UBIAD1 Health Risk Pathogenic Schnyder crystalline corneal dystrophy, Schnyder crystalline corneal dystrophy
RS118203948 UBIAD1 Health Risk Pathogenic Schnyder crystalline corneal dystrophy, Schnyder crystalline corneal dystrophy
RS118203949 UBIAD1 Health Risk Pathogenic Schnyder crystalline corneal dystrophy, Schnyder crystalline corneal dystrophy
RS118203950 UBIAD1 Health Risk Pathogenic Schnyder crystalline corneal dystrophy, Schnyder crystalline corneal dystrophy
RS118203951 UBIAD1 Health Risk Pathogenic Schnyder crystalline corneal dystrophy, Schnyder crystalline corneal dystrophy
RS118203952 UBIAD1 Health Risk Pathogenic Schnyder crystalline corneal dystrophy, Schnyder crystalline corneal dystrophy
RS118203953 UBIAD1 Health Risk Pathogenic Schnyder crystalline corneal dystrophy, Schnyder crystalline corneal dystrophy
RS118203955 PDSS2 Health Risk Pathogenic Coenzyme Q10 deficiency, primary
RS118203956 PDSS2 Health Risk Conflicting classifications of pathogenicity Coenzyme Q10 deficiency, primary
RS118203957 MARVELD2 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 49
RS118203958 STRA6 Health Risk Likely pathogenic Matthew-Wood syndrome, Matthew-Wood syndrome
RS118203960 STRA6 Health Risk Pathogenic/Likely pathogenic Matthew-Wood syndrome, STRA6-related disorder
RS118203961 STRA6 Health Risk Pathogenic Matthew-Wood syndrome, Matthew-Wood syndrome
RS118203963 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Charcot-Marie-Tooth disease axonal type 2X
RS118203964 AGL Health Risk Pathogenic Glycogen storage disease IIIa, Glycogen storage disease IIIa
RS118203965 CHMP4B Health Risk Pathogenic Cataract 31 multiple types, Cataract 31 multiple types
RS118203966 CHMP4B Health Risk Pathogenic Cataract 31 multiple types, Cataract 31 multiple types
RS118203967 PSAT1 Health Risk Pathogenic/Likely pathogenic PSAT deficiency, Neu-Laxova syndrome 2
RS118203968 G6PC3 Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
RS118203969 G6PC3 Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
RS118203970 G6PC3 Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
RS118203971 G6PC3 Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
RS118203972 FGD4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4H, Charcot-Marie-Tooth disease type 4
RS118203973 FGD4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4H, Charcot-Marie-Tooth disease type 4H
RS118203974 FGD4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4H, Charcot-Marie-Tooth disease type 4
RS118203975 MFSD8 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS118203976 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS118203977 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Macular dystrophy with central cone involvement
RS118203978 MFSD8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis
RS118203979 CLDN19 Health Risk Pathogenic/Likely pathogenic Renal hypomagnesemia 5 with ocular involvement, CLDN19-related disorder
RS118203980 CLDN19 Health Risk Pathogenic Renal hypomagnesemia 5 with ocular involvement, Renal hypomagnesemia 5 with ocular involvement
RS118203981 CLDN19 Health Risk Pathogenic/Likely pathogenic Renal hypomagnesemia 5 with ocular involvement, Renal hypomagnesemia 5 with ocular involvement
RS118203982 ALDH5A1 Health Risk Pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS118203983 ALDH5A1 Health Risk Pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS118203984 ALDH5A1 Health Risk Pathogenic/Likely pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS118203985 ADAMTSL4 Health Risk Pathogenic Ectopia lentis 2, isolated
RS118203988 PJVK Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 59, Autosomal recessive nonsyndromic hearing loss 59
RS118203989 PJVK Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 59, Rare genetic deafness
RS118203990 TRMU Health Risk Pathogenic Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Aminoglycoside-induced deafness
RS118203991 TRMU Health Risk Pathogenic Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
RS118203992 TRMU Health Risk Pathogenic/Likely pathogenic Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
RS118203993 ORAI1 Health Risk Pathogenic Combined immunodeficiency due to ORAI1 deficiency, Combined immunodeficiency due to ORAI1 deficiency
RS118203994 DOK7 Health Risk Likely pathogenic Congenital myasthenic syndrome 10, Congenital myasthenic syndrome
RS118203995 DOK7 Health Risk Pathogenic Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS118203996 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
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