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
RS1230092559 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Carcinoma of colon
RS1230096882 IDUA Health Risk Pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS1230118868 PANK2 Health Risk Likely pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS1230123411 ASNS Health Risk Likely pathogenic Abnormal cerebral morphology, Abnormal cerebral morphology
RS1230133310 SYNJ1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 53
RS1230140208 TGM1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 1, Lamellar ichthyosis
RS1230152194 ANO5 Health Risk Pathogenic —
RS1230192802 TCF4 Health Risk Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS1230203913 LZTR1 Health Risk Conflicting classifications of pathogenicity —
RS1230207719 FANCA Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS1230237404 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS1230241288 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1230243590 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1230244328 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1230271892 LRP5 Health Risk Pathogenic —
RS1230283665 VARS1 Health Risk Conflicting classifications of pathogenicity 6 conditions, Neurodevelopmental disorder with microcephaly
RS1230294673 FBXO11 Health Risk Pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS1230303971 CDH23 Health Risk Pathogenic Usher syndrome type 1D, Usher syndrome type 1
RS1230328335 RPGR Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1230340692 TTN Health Risk Conflicting classifications of pathogenicity —
RS1230343126 RARS2 Health Risk Pathogenic —
RS1230351650 ALMS1 Health Risk Pathogenic Alstrom syndrome, Cardiovascular phenotype
RS1230368107 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS1230382008 WHRN Health Risk Pathogenic/Likely pathogenic —
RS1230388887 TTC19 Health Risk Pathogenic —
RS1230407213 COL18A1 Health Risk Pathogenic —
RS1230429863 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome
RS1230512934 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1230530438 NDUFA10 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 22
RS1230532866 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1230538609 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS1230553094 MYH2 Health Risk Pathogenic —
RS1230558010 PKHD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease
RS1230578718 COL6A3 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1230591674 ALDH18A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant spastic paraplegia type 9, de Barsy syndrome
RS1230622899 SCN11A Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS1230625396 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1230629432 OPA3 Health Risk Likely pathogenic 3-Methylglutaconic aciduria type 3, Optic atrophy 3
RS1230629953 RMRP Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1230641631 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS1230668487 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1230674723 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1230676326 LRP2 Health Risk Pathogenic —
RS1230692815 BBS10 Health Risk Likely pathogenic Retinal dystrophy, Bardet-Biedl syndrome 10
RS1230710158 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS1230714956 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1230727136 PHKB Health Risk Pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS1230730741 TYRP1 Health Risk Pathogenic —
RS1230741949 PCARE Health Risk Pathogenic —
RS1230753352 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1230772677 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1230781262 PTS Health Risk Pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS12308034 ANO6 Health Risk Conflicting classifications of pathogenicity —
RS1230803568 PC Health Risk Pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS1230808770 GMPPB Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
RS1230821582 DSP Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic right ventricular dysplasia 8
RS1230836596 AFG2B Health Risk Likely pathogenic Neurodevelopmental disorder with hearing loss and spasticity, Neurodevelopmental disorder with hearing loss and spasticity
RS1230837637 FAT2 Health Risk Conflicting classifications of pathogenicity —
RS1230845897 UNC80 Health Risk Pathogenic Hypotonia, infantile
RS1230883512 RP1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1230886860 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1230892001 GCK Health Risk Pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS1230894568 NAGLU Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS1230899870 CHD3 Health Risk Likely pathogenic Snijders Blok-Campeau syndrome, Snijders Blok-Campeau syndrome
RS1230903176 ITGB2 Health Risk Pathogenic Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS1230911299 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, DNAH5-related disorder
RS1230916222 SPEF2 Health Risk Pathogenic Spermatogenic failure 43, Spermatogenic failure 43
RS1230917852 ALOX12B Health Risk Pathogenic Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
RS1230918876 MARS1 Health Risk Pathogenic —
RS1230919713 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS1230920104 ELN Health Risk Conflicting classifications of pathogenicity Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS1230923403 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS1230941179 JAM2 Health Risk Pathogenic Basal ganglia calcification, idiopathic
RS1230959391 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS1230995902 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1231012263 CHEK2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1231016571 WNT10B Health Risk Likely pathogenic Split hand-foot malformation 6, Split hand-foot malformation 6
RS1231024778 WFS1 Health Risk Pathogenic —
RS1231027193 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1231036283 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1231044656 MED13L Health Risk Conflicting classifications of pathogenicity Dextro-looped transposition of the great arteries, Dextro-looped transposition of the great arteries
RS1231097123 LMNA Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1231112953 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1231122388 CEP290 Health Risk Pathogenic Bardet-Biedl syndrome 14, Joubert syndrome
RS1231123861 PNPLA1 Health Risk Pathogenic Congenital ichthyosiform erythroderma, Congenital ichthyosiform erythroderma
RS1231150660 ELAC2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17
RS1231174547 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1231186035 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS1231204217 LZTR1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1231208679 THG1L Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1231217208 SIX5 Health Risk Conflicting classifications of pathogenicity —
RS1231250334 CNGB1 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 45
RS1231254705 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1231277831 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1231294235 TBR1 Health Risk Pathogenic Intellectual developmental disorder with autism and speech delay, Intellectual developmental disorder with autism and speech delay
RS1231303606 SETBP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 29
RS1231305572 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1231314681 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS1231321479 RP1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 1
RS1231343218 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Familial cancer of breast
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