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
RS981281975 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS981303167 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS981309385 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
RS981310991 CACNA1B Health Risk Conflicting classifications of pathogenicity —
RS9813235 FLNB Health Risk Conflicting classifications of pathogenicity —
RS981349334 KIF14 Health Risk Likely pathogenic Microcephaly 20, primary
RS981350121 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS981372351 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
RS981372486 PMM2 Health Risk Conflicting classifications of pathogenicity PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS981411860 MLC1 Health Risk Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS981419588 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS981444721 IVD Health Risk Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS981453462 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS981454067 HGD Health Risk Conflicting classifications of pathogenicity Alkaptonuria, Alkaptonuria
RS981486511 MYH6 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 14
RS981562354 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary cancer-predisposing syndrome
RS981565985 SMARCA2 Health Risk Conflicting classifications of pathogenicity —
RS981574088 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS981579065 PKLR Health Risk Pathogenic PKLR-related disorder, PKLR-related disorder
RS981582662 SKIC2 Health Risk Likely pathogenic —
RS981622980 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS981669644 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS981700726 CUL3 Health Risk Pathogenic NEURODEVELOPMENTAL DISORDER WITH AUTISM WITHOUT SEIZURES, NEURODEVELOPMENTAL DISORDER WITH AUTISM WITHOUT SEIZURES
RS981747624 AP1S1 Health Risk Pathogenic/Likely pathogenic MEDNIK syndrome, MEDNIK syndrome
RS981757203 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS981804211 ZFYVE26 Health Risk Pathogenic Hereditary spastic paraplegia 15, Spastic paraplegia
RS981874506 UNC80 Health Risk Pathogenic Hypotonia, infantile
RS981883034 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS981921410 TRIP11 Health Risk Pathogenic TRIP11-related disorder, Achondrogenesis
RS981968954 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS982043960 GALK1 Health Risk Pathogenic/Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS982113263 PNKP Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 12
RS982121798 ZNF341 Health Risk Pathogenic Hyper-IgE recurrent infection syndrome 3, autosomal recessive
RS982121969 UNC80 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS982124932 PACS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS982144870 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS982209417 EDA Health Risk Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS982218848 IVD Health Risk Pathogenic/Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS982225900 ADAMTSL2 Health Risk Conflicting classifications of pathogenicity Geleophysic dysplasia 1, Geleophysic dysplasia 1
RS982240587 TWIST1 Health Risk Pathogenic Saethre-Chotzen syndrome, Saethre-Chotzen syndrome
RS982256653 CLTC Health Risk Conflicting classifications of pathogenicity —
RS982261295 CLASP1;CLASP1-AS1;RNU4ATAC Health Risk Pathogenic/Likely pathogenic Roifman syndrome, RNU4ATAC spectrum disorder
RS982271145 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS982277188 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS982352950 CC2D2A Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS982371659 APOB Health Risk Pathogenic Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS982379114 AHI1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Joubert syndrome 3
RS982408430 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS982433923 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Inborn genetic diseases
RS982449380 KIAA0586 Health Risk Likely pathogenic Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS982468860 MTOR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS982518841 CAD Health Risk Pathogenic —
RS982536669 OTOG Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B
RS982545302 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS982548109 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS982556895 TP63 Health Risk Conflicting classifications of pathogenicity TP63-Related Spectrum Disorders, TP63-related disorder
RS982576013 HMGCR Health Risk Likely pathogenic Muscular dystrophy, limb-girdle
RS982619356 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS982650476 TTPA Health Risk Likely pathogenic Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
RS982682116 MOCS3 Health Risk Conflicting classifications of pathogenicity —
RS982697369 DNAAF4 Health Risk Pathogenic Dyslexia, susceptibility to
RS982745672 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS982770651 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS982804750 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS982830278 IMPDH1 Health Risk Pathogenic —
RS982830431 ASS1 Health Risk Pathogenic Citrullinemia type I, Citrullinemia
RS982831716 RELN Health Risk Likely pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS982893820 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23
RS982911729 ERI1 Health Risk Likely pathogenic Spondyloepimetaphyseal dysplasia, Guo-Campeau type
RS982933033 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS982936794 GNE Health Risk Pathogenic GNE myopathy, Sialuria
RS982944299 LZTR1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS982968807 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS983011713 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation 1, Capillary malformation-arteriovenous malformation syndrome
RS983041061 OPA1 Health Risk Pathogenic/Likely pathogenic —
RS983073692 FRAS1 Health Risk Likely pathogenic —
RS983077914 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS983107737 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS983116270 CYBA Health Risk Pathogenic Granulomatous disease, chronic
RS983129867 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS983169408 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS983216159 ACAT1 Health Risk Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS983216627 GJA8 Health Risk Pathogenic/Likely pathogenic Cataract 1 multiple types, Cataract 1 multiple types
RS983226027 RNF168 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS983274157 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS983279303 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS983340336 ADGRV1 Health Risk Pathogenic Febrile seizures, familial
RS983368102 CACNA1E Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 69
RS983394596 PKLR Health Risk Pathogenic —
RS983424324 GNE Health Risk Pathogenic/Likely pathogenic GNE myopathy, Sialuria
RS983427248 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS983431074 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS983457211 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS983463553 ATP1A1 Health Risk Conflicting classifications of pathogenicity ATP1A1-related disorder, ATP1A1-related disorder
RS983469033 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS983476178 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Recessive dystrophic epidermolysis bullosa
RS983495066 ZSWIM6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS9835034 LMOD3 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 10, Nemaline myopathy 10
RS983509465 PREPL Health Risk Pathogenic Myasthenic syndrome, congenital
RS983524169 FAT1 Health Risk Likely pathogenic Nephrotic syndrome, Nephrotic syndrome
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