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
RS727503904 DOLK Health Risk Pathogenic —
RS727503908 DYNC2H1 Health Risk Pathogenic —
RS727503909 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1
RS727503910 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS727503911 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS727503912 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS727503913 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS727503915 DYSF Health Risk Pathogenic/Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy
RS727503918 ETFA Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS727503919 ETFDH Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS727503925 FGD1;TSR2 Health Risk Conflicting classifications of pathogenicity TSR2-related disorder, TSR2-related disorder
RS727503926 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS727503927 FH Health Risk Pathogenic/Likely pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary leiomyomatosis and renal cell cancer
RS727503928 FH Health Risk Pathogenic —
RS727503930 FLNA Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Oto-palato-digital syndrome
RS727503931 FLNA Health Risk Pathogenic —
RS727503932 FOXC1 Health Risk Conflicting classifications of pathogenicity Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS727503934 FOXG1 Health Risk Pathogenic —
RS727503935 FOXG1 Health Risk Likely pathogenic FOXG1 disorder, Rett syndrome
RS727503939 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS727503940 GABRA1 Health Risk Pathogenic/Likely pathogenic Epilepsy, idiopathic generalized
RS727503941 GABRG2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Febrile seizures
RS727503943 GALE Health Risk Conflicting classifications of pathogenicity UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency
RS727503946 GALNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS727503947 GALT Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS727503948 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS727503949 GLA Health Risk Pathogenic Fabry disease, Cardiovascular phenotype
RS727503950 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Migalastat response
RS727503951 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS727503952 GLB1 Health Risk Pathogenic GM1 gangliosidosis, Mucopolysaccharidosis
RS727503954 GLB1 Health Risk Likely pathogenic —
RS727503955 ADGRG1 Health Risk Conflicting classifications of pathogenicity —
RS727503958 HCN4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome 8
RS727503959 HEXB Health Risk Conflicting classifications of pathogenicity Sandhoff disease, Sandhoff disease
RS727503961 HEXB Health Risk Conflicting classifications of pathogenicity Sandhoff disease, Sandhoff disease
RS727503962 HGSNAT Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-C
RS727503963 HMGCL Health Risk Pathogenic/Likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS727503964 HPRT1 Health Risk Pathogenic —
RS727503966 IDUA Health Risk Pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS727503967 IDUA Health Risk Pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS727503968 IQCB1 Health Risk Pathogenic Nephronophthisis, Senior-Loken syndrome 5
RS727503969 IQCB1 Health Risk Pathogenic Nephronophthisis, Senior-Loken syndrome 5
RS727503970 IVD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS727503973 KCNQ2 Health Risk Conflicting classifications of pathogenicity —
RS727503974 KCNQ2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 7
RS727503976 KDM6A Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 2, Kabuki syndrome 2
RS727503977 NEXMIF Health Risk Pathogenic X-linked intellectual disability, Cantagrel type
RS727503979 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome
RS727503980 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS727503981 KMT2D Health Risk Conflicting classifications of pathogenicity KMT2D-related disorder, Kabuki syndrome
RS727503982 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS727503983 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome 1
RS727503985 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS727503986 KMT2D Health Risk Pathogenic —
RS727503987 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome
RS727503988 KMT2D Health Risk Pathogenic —
RS727503989 KMT2D Health Risk Pathogenic —
RS727503990 KMT2D Health Risk Pathogenic —
RS727503992 LAMA2 Health Risk Pathogenic/Likely pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS727503994 LARGE1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy type B6, Muscular dystrophy-dystroglycanopathy type B6
RS727503996 MAP2K1 Health Risk Pathogenic Noonan syndrome, RASopathy
RS727503997 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS727503999 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS727504000 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS727504001 MCCC1 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, Methylcrotonyl-CoA carboxylase deficiency
RS727504002 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, Methylcrotonyl-CoA carboxylase deficiency
RS727504004 MCCC1 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 1 deficiency, MCCC1-related disorder
RS727504005 MCCC1 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, MCCC1-related disorder
RS727504006 MCCC1 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS727504009 MCCC2 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 2 deficiency, MCCC2-related disorder
RS727504010 MCCC2 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS727504011 MCCC2 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS727504012 MCPH1 Health Risk Conflicting classifications of pathogenicity —
RS727504015 MID1 Health Risk Conflicting classifications of pathogenicity —
RS727504020 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
RS727504022 MMUT Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
RS727504023 MYO7A Health Risk Conflicting classifications of pathogenicity —
RS727504024 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2
RS727504026 MYOT Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 3, Inborn genetic diseases
RS727504028 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS727504031 NDP Health Risk Pathogenic Atrophia bulborum hereditaria, Atrophia bulborum hereditaria
RS727504033 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS727504037 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS727504039 NHS Health Risk Conflicting classifications of pathogenicity Nance-Horan syndrome, Cataract 40
RS727504040 NHS Health Risk Pathogenic —
RS727504042 NHS Health Risk Conflicting classifications of pathogenicity Nance-Horan syndrome, Nance-Horan syndrome
RS727504044 NHS Health Risk Pathogenic —
RS727504046 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS727504047 NIPBL Health Risk Pathogenic —
RS727504053 NSD1 Health Risk Conflicting classifications of pathogenicity —
RS727504054 NSD1 Health Risk Conflicting classifications of pathogenicity —
RS727504058 OPA1 Health Risk Pathogenic —
RS727504059 OPA1 Health Risk Pathogenic Ocular impairment, Ocular impairment
RS727504060 OPA1 Health Risk Pathogenic Optic atrophy, Optic atrophy
RS727504062 OPHN1 Health Risk Conflicting classifications of pathogenicity —
RS727504064 PAX6 Health Risk Conflicting classifications of pathogenicity Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome
RS727504067 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS727504069 PCDH15 Health Risk Conflicting classifications of pathogenicity PCDH15-related disorder, PCDH15-related disorder
RS727504070 PCDH15 Health Risk Conflicting classifications of pathogenicity —
RS727504072 PDE6A Health Risk Conflicting classifications of pathogenicity —
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