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
RS1392002240 NDUFAF6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139200312 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS139201321 OTOF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1392028993 TRPV4 Health Risk Likely pathogenic Auditory neuropathy, Auditory neuropathy
RS139203183 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 4, Senior-Loken syndrome 4
RS139203363 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Decreased circulating carnitine concentration
RS139205012 NFASC Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with central and peripheral motor dysfunction, Neurodevelopmental disorder with central and peripheral motor dysfunction
RS1392057115 ALMS1 Health Risk Pathogenic/Likely pathogenic Alstrom syndrome, Cardiovascular phenotype
RS139205893 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, MSH3-related disorder
RS139206060 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS139206848 EFTUD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Mandibulofacial dysostosis-microcephaly syndrome
RS1392068839 PAX7 Health Risk Pathogenic Myopathy, congenital
RS1392069885 FADD Health Risk Conflicting classifications of pathogenicity FADD-related immunodeficiency, FADD-related immunodeficiency
RS139207271 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS1392072769 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS139207764 CNGB3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 3, Achromatopsia
RS1392086265 SPEG Health Risk Likely pathogenic Myopathy, centronuclear
RS1392086533 BMPR1A Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS139208806 TGM1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS139209450 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1392095786 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS139211339 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS1392118289 HAX1 Health Risk Pathogenic Kostmann syndrome, Kostmann syndrome
RS1392125158 ELP1 Health Risk Likely pathogenic —
RS139212712 MYH2 Health Risk Conflicting classifications of pathogenicity Myopathy, proximal
RS1392144132 PFKM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type VII
RS139214550 PRKCSH Health Risk Conflicting classifications of pathogenicity Polycystic liver disease 1, Inborn genetic diseases
RS139214585 RINT1 Health Risk Conflicting classifications of pathogenicity —
RS139214644 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Inborn genetic diseases
RS139215336 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype
RS1392170803 FLNC Health Risk Likely pathogenic Hypertrophic cardiomyopathy 26, Hypertrophic cardiomyopathy 26
RS139217120 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS139217250 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS139218045 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, MAN2B1-related disorder
RS139218324 MC2R Health Risk Likely pathogenic Glucocorticoid Deficiency, Glucocorticoid deficiency 1
RS1392187299 ASXL2 Health Risk Conflicting classifications of pathogenicity Shashi-Pena syndrome, Shashi-Pena syndrome
RS139218809 FOXN1 Health Risk Conflicting classifications of pathogenicity T-cell immunodeficiency, congenital alopecia
RS1392191365 WT1 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, 11p partial monosomy syndrome
RS139219355 NEFH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2CC
RS1392196900 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS139219896 NDUFAF5 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 16
RS139220302 HSPG2 Health Risk Conflicting classifications of pathogenicity —
RS1392208482 CHD8 Health Risk Conflicting classifications of pathogenicity —
RS139221232 RTEL1 Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS1392212781 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS139221577 IL7R Health Risk Pathogenic/Likely pathogenic Immunodeficiency 104, Immunodeficiency 104
RS139222112 RBP3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139223000 ABCA12 Health Risk Conflicting classifications of pathogenicity —
RS139223525 ESPN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1392237616 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS139223781 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS139223977 DACT1 Health Risk Conflicting classifications of pathogenicity Townes-Brocks syndrome 2, Townes-Brocks syndrome 2
RS139223980 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS139225791 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS1392262248 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1392263235 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1392264337 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS139226976 FSHR Health Risk Conflicting classifications of pathogenicity Ovarian dysgenesis 1, Ovarian hyperstimulation syndrome
RS139227281 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder
RS139227684 CIITA Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS139228069 TREX1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
RS139228075 MPI Health Risk Conflicting classifications of pathogenicity MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS1392285676 PRMT9 Health Risk Pathogenic Neurodevelopmental abnormality, Neurodevelopmental abnormality
RS139228801 CASQ2 Health Risk Pathogenic/Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS1392291885 GBA1 Health Risk Conflicting classifications of pathogenicity Gaucher disease type I, Gaucher disease
RS139229302 ATP1A2 Health Risk Conflicting classifications of pathogenicity Familial hemiplegic migraine, Alternating hemiplegia of childhood 1
RS139229417 POMC Health Risk Conflicting classifications of pathogenicity Obesity, Obesity due to pro-opiomelanocortin deficiency
RS139229738 CHST14 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, musculocontractural type
RS139229844 IFT172 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Short-rib thoracic dysplasia 10 with or without polydactyly
RS139230162 ARID1A Health Risk Conflicting classifications of pathogenicity ARID1A-related disorder, ARID1A-related disorder
RS139230275 CR2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS139230842 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS139232378 OTOGL Health Risk Conflicting classifications of pathogenicity OTOGL-related disorder, OTOGL-related disorder
RS1392325549 DST Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS139232844 ANXA11 Health Risk Conflicting classifications of pathogenicity ANXA11-related disorder, Inborn genetic diseases
RS1392339617 NKX2-1 Health Risk Pathogenic Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome
RS139234053 MARVELD2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 49, Autosomal recessive nonsyndromic hearing loss 49
RS139234501 EPS15L1 Health Risk Conflicting classifications of pathogenicity —
RS139234943 TTC8 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 51, Bardet-Biedl syndrome 8
RS139235142 BBS9 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 9, Bardet-Biedl syndrome
RS139235751 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS1392358462 SLC13A5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS1392359380 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS139235944 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1392361503 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS1392364437 TCIRG1 Health Risk Pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS139236922 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Idiopathic hypereosinophilic syndrome
RS139236924 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS139236965 FREM2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139237104 COL27A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139237340 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Inborn genetic diseases
RS139238137 PRICKLE2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Progressive myoclonic epilepsy
RS139238702 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS139239352 VMA12 Health Risk Likely pathogenic —
RS1392398456 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1392422167 MAN2B1 Health Risk Pathogenic/Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS139243418 COL6A1 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS139243761 CUL7 Health Risk Conflicting classifications of pathogenicity 3M syndrome 1, CUL7-related disorder
RS139243841 DLC1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, Thyroid cancer
RS139243866 ATP1A2 Health Risk Conflicting classifications of pathogenicity Familial hemiplegic migraine, Familial hemiplegic migraine
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