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
RS773367495 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS773368593 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS773370487 POLR3A Health Risk Likely pathogenic —
RS773370513 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS773371108 NEB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nemaline myopathy 2
RS773371488 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2A2
RS773371540 ABCB11 Health Risk Conflicting classifications of pathogenicity —
RS773372123 IFT140 Health Risk Pathogenic Retinitis pigmentosa, Saldino-Mainzer syndrome
RS773372519 CNGB3 Health Risk Pathogenic Achromatopsia 3, Leber congenital amaurosis
RS773372553 DMD Health Risk Likely pathogenic Becker muscular dystrophy, Duchenne muscular dystrophy
RS773375573 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS773378630 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS773379092 LAMP2 Health Risk Conflicting classifications of pathogenicity Danon disease, Danon disease
RS773379358 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS773379832 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS773380015 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS773380068 COL9A1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Marfan syndrome
RS773380144 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS773381709 GBE1 Health Risk Pathogenic Glycogen storage disease, type IV
RS773381712 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia 3
RS773382166 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS773382223 CWC27 Health Risk Pathogenic Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome, Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
RS773383379 CTNNA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS773385516 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS773386253 DYSF Health Risk Pathogenic/Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS773386256 C2CD3 Health Risk Pathogenic —
RS773386433 FREM2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773386777 CEP290 Health Risk Pathogenic/Likely pathogenic 6 conditions, Bardet-Biedl syndrome 14
RS773387490 INPP5B Health Risk Likely pathogenic Dent disease type 2, Dent disease type 2
RS773387922 AIPL1 Health Risk Likely pathogenic AIPL1-related retinopathy, AIPL1-related retinopathy
RS773388081 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS773388117 FRAS1 Health Risk Pathogenic —
RS773388338 POLR1C Health Risk Pathogenic Hypomyelinating leukodystrophy 11, Hypomyelinating leukodystrophy 11
RS773389405 PPM1D Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
RS773389781 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS773390201 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS773390529 CRPPA Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS773391545 CACNB4 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Episodic ataxia type 5
RS773392085 SETBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773392173 ALG13 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 36
RS773393618 APTX Health Risk Pathogenic/Likely pathogenic —
RS773393717 SLC5A7 Health Risk Conflicting classifications of pathogenicity Distal spinal muscular atrophy, Neuronopathy
RS773393960 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS773394284 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS773395000 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS773395582 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS773395822 MC1R Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant
RS773396320 XIST Health Risk Likely pathogenic X inactivation, familial skewed
RS773397014 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 5
RS773397553 TBX5 Health Risk Pathogenic —
RS773398782 HLCS Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Inborn genetic diseases
RS773400437 SUMF1 Health Risk Pathogenic/Likely pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS773401224 AP4E1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Congenital myopathy
RS773401248 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS773401427 ALG13 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 36
RS773401697 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS773401705 ATL1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS773401747 TRIO Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability
RS773402232 SOX3 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability
RS773402451 TCIRG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 1, Inborn genetic diseases
RS773404017 ADSL Health Risk Pathogenic/Likely pathogenic Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS773404494 PCDH15 Health Risk Pathogenic Rare genetic deafness, Usher syndrome type 1F
RS773404950 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, Inborn genetic diseases
RS773405409 KMT2D Health Risk Conflicting classifications of pathogenicity KMT2D-related disorder, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS773406384 PEX7 Health Risk Likely pathogenic Peroxisome biogenesis disorder 9B, Rhizomelic chondrodysplasia punctata type 1
RS773406981 RPL11 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS773406992 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773407463 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS773407492 PKD1 Health Risk Conflicting classifications of pathogenicity PKD1-related disorder, Polycystic kidney disease
RS773407652 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS773407951 LPL Health Risk Pathogenic Hyperlipoproteinemia, type I
RS773408387 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS773409140 NBAS Health Risk Likely pathogenic —
RS773409311 GBA1 Health Risk Pathogenic/Likely pathogenic Gaucher disease, Gaucher disease
RS773410146 CNGA3 Health Risk Likely pathogenic —
RS773410433 NKX2-1 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease 2, Interstitial lung disease 2
RS773410751 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS773410790 PCGF2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773412686 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS773412718 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS773413634 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS773416085 DSE Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, musculocontractural type 2
RS773417074 BBS2 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome
RS773417196 USH2A Health Risk Pathogenic USH2A-related disorder, USH2A-related disorder
RS773417270 BMPR1B Health Risk Conflicting classifications of pathogenicity Type A2 brachydactyly, Acromesomelic dysplasia 3
RS773417785 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS773417792 CRELD1 Health Risk Conflicting classifications of pathogenicity Atrioventricular septal defect, susceptibility to
RS773419494 CDON Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 11, Inborn genetic diseases
RS773423028 COL17A1 Health Risk Pathogenic Epidermolysis bullosa, junctional 4
RS773423915 HNRNPUL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773424828 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS773424975 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Inborn genetic diseases
RS773425996 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Autosomal dominant cerebellar ataxia
RS773426468 TUSC3 Health Risk Pathogenic Intellectual disability, autosomal recessive 7
RS773428107 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773428143 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Inborn genetic diseases
RS773428383 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS773428910 VPS13A Health Risk Pathogenic —
RS773429449 FERMT1 Health Risk Pathogenic Kindler syndrome, Kindler syndrome
RS773431795 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
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