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
RS948013496 TINF2 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Dyskeratosis congenita
RS948061247 WT1 Health Risk Conflicting classifications of pathogenicity Drash syndrome, Frasier syndrome
RS948080320 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS948087886 USH2A Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 39
RS948094961 NR2E3 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS948132339 RECQL Health Risk Conflicting classifications of pathogenicity RECQL-related disorder, RECQL-related disorder
RS948132360 WT1 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, 11p partial monosomy syndrome
RS948160026 TTC8 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Retinitis pigmentosa 51
RS948217913 PTPRQ Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 84A, Autosomal recessive nonsyndromic hearing loss 84A
RS948230523 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS948232391 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS948246694 PHEX Health Risk Pathogenic —
RS948273081 TPO Health Risk Pathogenic —
RS948273916 F2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Congenital prothrombin deficiency
RS948285503 C19orf12 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 4, Neurodegeneration with brain iron accumulation 4
RS948326397 DRC2 Health Risk Pathogenic Primary ciliary dyskinesia 27, Primary ciliary dyskinesia 27
RS948326794 ASNS Health Risk Pathogenic/Likely pathogenic Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
RS948402447 CBS Health Risk Pathogenic Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS948408318 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS948418225 BBS9 Health Risk Pathogenic Bardet-Biedl syndrome, Abnormality of the eye
RS948431638 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS948441067 LIG4 Health Risk Pathogenic/Likely pathogenic DNA ligase IV deficiency, Multiple myeloma
RS948462298 IMPG1 Health Risk Likely pathogenic —
RS948481222 MMP21 Health Risk Likely pathogenic —
RS948484408 SDHB Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Pheochromocytoma
RS948490589 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS948524172 NSUN2 Health Risk Pathogenic —
RS948534045 TTC7A Health Risk Pathogenic/Likely pathogenic Multiple gastrointestinal atresias, Gastrointestinal defects and immunodeficiency syndrome 1
RS948537906 STAT3 Health Risk Conflicting classifications of pathogenicity Hyper-IgE recurrent infection syndrome 1, autosomal dominant
RS948561024 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS948568790 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS948586287 COL6A3 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS948596983 DST Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS948625674 ATXN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS948633441 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, Type 2 collagenopathy
RS948639021 PALLD Health Risk Conflicting classifications of pathogenicity Pancreatic cancer, susceptibility to
RS948674144 RXYLT1 Health Risk Pathogenic —
RS948675422 FLNC Health Risk Pathogenic Hypertrophic cardiomyopathy 26, Cardiovascular phenotype
RS948681475 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular cardiomyopathy
RS948687949 NEXMIF Health Risk Conflicting classifications of pathogenicity —
RS948820149 PPARG Health Risk association Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS948829374 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS948915766 PKD1L1 Health Risk Likely pathogenic PKD1L1-related disorder, PKD1L1-related disorder
RS948928965 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS948931144 RMRP Health Risk Pathogenic Metaphyseal dysplasia without hypotrichosis, Metaphyseal chondrodysplasia
RS948934468 GNB2 Health Risk Pathogenic Sick sinus syndrome 4, Sick sinus syndrome 4
RS948953674 NBEAL2 Health Risk Likely pathogenic Gray platelet syndrome, Gray platelet syndrome
RS948962 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1B, Usher syndrome type 1B
RS948980243 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Hereditary pancreatitis
RS948980711 CLCN7 Health Risk Pathogenic Autosomal recessive osteopetrosis 4, Autosomal recessive osteopetrosis 4
RS948982039 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS948990641 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS948998853 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 25, Retinal dystrophy
RS949082769 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS949092641 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS949111967 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS949130021 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS949177 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS949187421 DES Health Risk Likely pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS949198387 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS949229098 MSRB3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 74, Autosomal recessive nonsyndromic hearing loss 74
RS9492297 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS949249162 ETFDH Health Risk Pathogenic —
RS949254623 CNGA3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 2, Achromatopsia 2
RS949262067 CSF3R Health Risk Conflicting classifications of pathogenicity Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Inborn genetic diseases
RS949271895 PMM2 Health Risk Conflicting classifications of pathogenicity PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS949327136 DKC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Dyskeratosis congenita
RS949331605 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS949335475 GCNT2 Health Risk Pathogenic Cataract 13 with adult I phenotype, Cataract 13 with adult I phenotype
RS949388785 SDHAF2 Health Risk Pathogenic/Likely pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS949421614 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS949436167 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS949446550 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS949456055 GYG1 Health Risk Likely pathogenic Polyglucosan body myopathy type 2, Glycogen storage disease XV
RS949472192 CFTR Health Risk Conflicting classifications of pathogenicity CFTR-related disorder, Cystic fibrosis
RS949492765 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS949522665 NTRK2 Health Risk Conflicting classifications of pathogenicity —
RS949548349 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS949576201 ABCA12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS949598599 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS949606263 CC2D2A Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS949623707 TBCD Health Risk Likely pathogenic —
RS949695076 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS949717573 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Cardiovascular phenotype
RS949729827 PSAP Health Risk Likely pathogenic Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency
RS949745416 ADA Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS949765986 SOX10 Health Risk Conflicting classifications of pathogenicity —
RS949790323 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS949793708 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS949806741 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS949830349 SLC7A7 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS949841477 SLC34A3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease
RS949855345 GLI3 Health Risk Conflicting classifications of pathogenicity Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS949860707 DEAF1 Health Risk Pathogenic/Likely pathogenic DEAF1-related disorder, DEAF1-related disorder
RS949868315 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS949932623 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiac arrhythmia
RS949933368 CBL Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, RASopathy
RS949938763 ITPR1 Health Risk Conflicting classifications of pathogenicity Gillespie syndrome, Inborn genetic diseases
RS949941431 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS949979832 OPA1 Health Risk Conflicting classifications of pathogenicity —
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