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
RS78518523 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS78523176 C1S Health Risk Conflicting classifications of pathogenicity Malignant tumor of esophagus, Ovarian serous cystadenocarcinoma
RS78532707 ALDH4A1 Health Risk Pathogenic/Likely pathogenic Hyperprolinemia type 2, Hyperprolinemia type 2
RS78535164 VANGL1 Health Risk Conflicting classifications of pathogenicity Neural tube defect, Sacral defect with anterior meningocele
RS78544619 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS78555408 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS78564552 CRBN Health Risk Conflicting classifications of pathogenicity —
RS78564724 ASS1 Health Risk Conflicting classifications of pathogenicity Citrullinemia type I, Citrullinemia
RS78567928 NDUFAF4 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS78571038 SLC18A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS78592085 NEB Health Risk Conflicting classifications of pathogenicity Muscle weakness, Congenital muscular dystrophy
RS78592515 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, 6 conditions
RS78593627 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS78598639 SPTA1 Health Risk Conflicting classifications of pathogenicity Pyropoikilocytosis, hereditary
RS7861780 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS786200859 CTSA Health Risk Pathogenic GALACTOSIALIDOSIS, ADULT
RS786200863 GUSB Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS786200864 HIBCH Health Risk Pathogenic 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency
RS786200867 TMEM67 Health Risk Pathogenic COACH syndrome 1, Joubert syndrome 6
RS786200868 TMEM67 Health Risk Pathogenic COACH syndrome 1, Meckel-Gruber syndrome
RS786200869 L2HGDH Health Risk Pathogenic L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria
RS786200870 L2HGDH Health Risk Pathogenic L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria
RS786200873 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS786200874 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS786200875 DSG4 Health Risk Pathogenic Hypotrichosis 6, Hypotrichosis 6
RS786200876 HSD3B7 Health Risk Pathogenic Congenital bile acid synthesis defect 1, HSD3B7-related disorder
RS786200877 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS786200878 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS786200879 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS786200881 SLC26A2 Health Risk Pathogenic Atelosteogenesis type II, Multiple epiphyseal dysplasia type 4
RS786200882 STRC Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 16, Autosomal recessive nonsyndromic hearing loss 16
RS786200883 STRC Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 16, Autosomal recessive nonsyndromic hearing loss 16
RS786200884 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency, partial
RS786200885 CLDN14 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 29, Autosomal recessive nonsyndromic hearing loss 29
RS786200887 RECQL4 Health Risk Pathogenic Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome
RS786200889 RECQL4 Health Risk Likely pathogenic Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome
RS786200892 RPS26 Health Risk Pathogenic Diamond-Blackfan anemia 10, Diamond-Blackfan anemia 10
RS786200893 YARS1 Health Risk Pathogenic Charcot-Marie-Tooth disease dominant intermediate C, Charcot-Marie-Tooth disease dominant intermediate C
RS786200895 GJB3 Health Risk Conflicting classifications of pathogenicity Deafness, autosomal dominant
RS786200896 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS786200897 DYSF Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS786200898 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS786200899 DLL3;LOC130064417;PLEKHG2 Health Risk Pathogenic Spondylocostal dysostosis 1, autosomal recessive
RS786200900 DLL3 Health Risk Pathogenic/Likely pathogenic Spondylocostal dysostosis 1, autosomal recessive
RS786200902 DLL3 Health Risk Pathogenic Spondylocostal dysostosis 1, autosomal recessive
RS786200903 DLL3 Health Risk Pathogenic Spondylocostal dysostosis 1, autosomal recessive
RS786200904 RAPSN Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1
RS786200905 RAPSN Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 11, Congenital myasthenic syndrome
RS786200908 PDE6C Health Risk Pathogenic Achromatopsia 5, Achromatopsia 5
RS786200909 PDE6C Health Risk Pathogenic Achromatopsia 5, Achromatopsia 5
RS786200910 PDE6C Health Risk Pathogenic Achromatopsia 5, Achromatopsia 5
RS786200911 PDE6C Health Risk Pathogenic Achromatopsia 5, Achromatopsia 5
RS786200912 PIGA Health Risk Pathogenic Paroxysmal nocturnal hemoglobinuria, Paroxysmal nocturnal hemoglobinuria
RS786200913 CUL4B Health Risk Pathogenic X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type
RS786200914 FHL1 Health Risk Pathogenic X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy
RS786200915 IDUA Health Risk Pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS786200919 ERCC5 Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum, group G
RS786200920 ERCC5 Health Risk Pathogenic Xeroderma pigmentosum, group G
RS786200922 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS786200923 COL5A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, classic type
RS786200924 ACO2 Health Risk Pathogenic Infantile cerebellar-retinal degeneration, Infantile cerebellar-retinal degeneration
RS786200925 WNT5A Health Risk Likely pathogenic Autosomal dominant Robinow syndrome 1, Autosomal dominant Robinow syndrome 1
RS786200926 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS786200927 SMOC2 Health Risk Pathogenic Dentin dysplasia type I, Dentin dysplasia type I
RS786200928 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Usher syndrome
RS786200929 IQCB1 Health Risk Pathogenic Senior-Loken syndrome 5, Senior-Loken syndrome 5
RS786200930 LRSAM1 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS786200931 IRX5 Health Risk Pathogenic Craniofacial dysplasia - osteopenia syndrome, Craniofacial dysplasia - osteopenia syndrome
RS786200932 HADH Health Risk Pathogenic Hyperinsulinemic hypoglycemia, familial
RS786200933 PAPSS2 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, PAPSS2 type
RS786200934 PAPSS2 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, PAPSS2 type
RS786200935 RPS19 Health Risk Pathogenic Diamond-Blackfan anemia 1, Diamond-Blackfan anemia 1
RS786200936 RPS19 Health Risk Likely pathogenic Diamond-Blackfan anemia 1, Diamond-Blackfan anemia
RS786200937 FIG4 Health Risk Pathogenic Yunis-Varon syndrome, Charcot-Marie-Tooth disease type 4
RS786200938 B3GALT6 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia with joint laxity, type 1
RS786200939 B3GALT6 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia with joint laxity, type 1
RS786200943 B3GALT6 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia with joint laxity, type 1
RS786200944 RAB28 Health Risk Pathogenic Cone-rod dystrophy 18, Retinal dystrophy
RS786200946 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS786200947 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS786200948 FOXP1 Health Risk Likely pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS786200949 KIF1A Health Risk Pathogenic Hereditary spastic paraplegia, Hereditary spastic paraplegia 30
RS786200952 KAT6A Health Risk Pathogenic Syndromic intellectual disability, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
RS786200953 MALT1 Health Risk Likely pathogenic Combined immunodeficiency due to MALT1 deficiency, Combined immunodeficiency due to MALT1 deficiency
RS786200956 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS786200959 KAT6A Health Risk Pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Syndromic intellectual disability
RS786200960 KAT6A Health Risk Pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Inborn genetic diseases
RS786200961 KAT6A Health Risk Pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
RS786200962 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Episodic ataxia type 2
RS786200963 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS786200964 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome
RS786200965 ARSA Health Risk Conflicting classifications of pathogenicity Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS786200969 CHD7 Health Risk Pathogenic —
RS786200971 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome 1, FG syndrome
RS786200973 FLNA Health Risk Pathogenic —
RS786200976 FOXP2 Health Risk Pathogenic —
RS786200978 GALT Health Risk Pathogenic —
RS786200979 GBA1 Health Risk Conflicting classifications of pathogenicity —
RS786200980 HPRT1 Health Risk Pathogenic Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
RS786200981 MEF2C Health Risk Pathogenic —
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