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
RS1242279733 ADAMTS2 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS12422945 OTOGL Health Risk Conflicting classifications of pathogenicity —
RS1242324755 EYS Health Risk Pathogenic —
RS1242337070 CLN5 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5
RS1242347607 LZTR1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1242358787 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1242363114 CNGB1 Health Risk Pathogenic —
RS1242372187 CHD7 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome
RS1242404608 IMPG1 Health Risk Pathogenic —
RS1242415839 FREM2 Health Risk Conflicting classifications of pathogenicity Isolated cryptophthalmia, Fraser syndrome 2
RS1242448684 NPHS1 Health Risk Pathogenic/Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1242455927 MBD4 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1242465339 UQCRFS1 Health Risk Pathogenic Propionic acidemia, Cardiomyopathy
RS1242486415 CTC1 Health Risk Likely pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS1242518055 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1242532564 CPLANE1 Health Risk Pathogenic Joubert syndrome and related disorders, Joubert syndrome and related disorders
RS1242535815 TERT Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant
RS1242540921 PHKB Health Risk Pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS1242558715 ABCC2 Health Risk Likely pathogenic ABCC2-related disorder, ABCC2-related disorder
RS1242562412 PGAP3 Health Risk Pathogenic Inborn genetic diseases, Hyperphosphatasia with intellectual disability syndrome 4
RS1242579404 ERCC5 Health Risk Pathogenic Xeroderma pigmentosum-Cockayne syndrome complex, Xeroderma pigmentosum-Cockayne syndrome complex
RS1242612823 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1242616857 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1242620940 SDHA Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 5
RS1242624892 COL11A2 Health Risk Pathogenic —
RS1242667371 LIFR Health Risk Pathogenic/Likely pathogenic Stüve-Wiedemann syndrome 1, Stüve-Wiedemann syndrome 1
RS1242685917 NDUFAF3 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 18
RS1242697341 CHD7 Health Risk Conflicting classifications of pathogenicity CHD7-related disorder, CHARGE syndrome
RS1242741686 MTR Health Risk Conflicting classifications of pathogenicity Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS1242751535 ALS2 Health Risk Conflicting classifications of pathogenicity ALS2-related disorder, Amyotrophic lateral sclerosis type 2
RS1242756437 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1242775893 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1242801984 RELN Health Risk Conflicting classifications of pathogenicity RELN-related disorder, Norman-Roberts syndrome
RS1242817438 SIGMAR1 Health Risk Pathogenic Autosomal recessive distal spinal muscular atrophy 2, Amyotrophic lateral sclerosis type 16
RS1242821238 DNAI2 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1242832482 CLPB Health Risk Likely pathogenic 3-methylglutaconic aciduria, type VIIB
RS1242842147 HGSNAT Health Risk Likely pathogenic Retinitis pigmentosa 73, Mucopolysaccharidosis
RS1242850856 IL1RAPL1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 21
RS1242862941 PRPH2 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Stargardt disease
RS1242866061 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS1242866408 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa
RS1242880171 ELP1 Health Risk Likely pathogenic —
RS1242885838 TGFBR2 Health Risk Uncertain significance/Uncertain risk allele Familial thoracic aortic aneurysm and aortic dissection, Diabetic retinopathy
RS1242888821 BBS10 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Inborn genetic diseases
RS1242898623 CBS Health Risk Likely pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS1242922135 COL7A1 Health Risk Conflicting classifications of pathogenicity Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS1242938563 C19orf12 Health Risk Likely pathogenic —
RS1242945375 PIK3CA Health Risk Pathogenic Megalencephaly-capillary malformation-polymicrogyria syndrome, PIK3CA related overgrowth syndrome
RS1242948205 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1243024601 MAN1B1 Health Risk Pathogenic Rafiq syndrome, Rafiq syndrome
RS1243033176 CC2D1A Health Risk Likely pathogenic —
RS1243056540 CTC1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS1243059404 HGD Health Risk Likely pathogenic Alkaptonuria, Alkaptonuria
RS1243063129 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1243079862 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS1243089358 WAS Health Risk Pathogenic X-linked severe congenital neutropenia, Thrombocytopenia 1
RS1243092519 GPR179 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1243093278 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1243094816 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1243111732 EP300 Health Risk Conflicting classifications of pathogenicity EP300-related disorder, Inborn genetic diseases
RS1243113655 MPL Health Risk Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS1243124080 AK2 Health Risk Likely pathogenic Reticular dysgenesis, Reticular dysgenesis
RS1243125644 DOCK7 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 23
RS1243135564 IPO8 Health Risk Pathogenic/Likely pathogenic IPO8-related aortopathy, VISS syndrome
RS1243154971 PEX3 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS1243163 SERPINA1 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS1243172283 KMT2E Health Risk Pathogenic/Likely pathogenic O'Donnell-Luria-Rodan syndrome, Inborn genetic diseases
RS1243173716 MERTK Health Risk Pathogenic —
RS1243182982 PIGS Health Risk Pathogenic Glycosylphosphatidylinositol biosynthesis defect 18, Glycosylphosphatidylinositol biosynthesis defect 18
RS1243184131 SCN5A Health Risk Pathogenic —
RS1243213118 ACSF3 Health Risk Pathogenic/Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS1243213428 TYMP Health Risk Pathogenic —
RS1243259932 TELO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1243264280 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS1243282597 CEP250 Health Risk Pathogenic/Likely pathogenic CEP250-related disorder, CEP250-related disorder
RS1243301263 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1243320734 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS1243335115 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS1243348441 OTOG Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B
RS1243388778 PYGL Health Risk Pathogenic Glycogen storage disease, type VI
RS1243406137 USH2A Health Risk Conflicting classifications of pathogenicity —
RS1243412120 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1243446017 ABCB4 Health Risk Likely pathogenic Progressive familial intrahepatic cholestasis type 3, Progressive familial intrahepatic cholestasis type 3
RS1243469712 MLYCD Health Risk Likely pathogenic Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS1243474404 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS1243475474 TBC1D24 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy
RS1243488306 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1243515778 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1243527780 KPTN Health Risk Pathogenic/Likely pathogenic See cases, Macrocephaly-developmental delay syndrome
RS1243531358 GALE Health Risk Conflicting classifications of pathogenicity UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency
RS1243531372 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1243555074 CNGB3 Health Risk Pathogenic —
RS1243557809 COL17A1 Health Risk Pathogenic —
RS1243558040 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS12435635 SPTB Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS1243584839 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS1243587288 MFRP Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Isolated microphthalmia 5
RS1243628683 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1243659384 FAT4 Health Risk Pathogenic —
RS1243671468 MCCC1 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
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