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
RS141134837 SIPA1L3 Health Risk Conflicting classifications of pathogenicity —
RS141135250 DACT1 Health Risk Conflicting classifications of pathogenicity DACT1-related disorder, Townes syndrome
RS141135321 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Inborn genetic diseases
RS1411354209 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1411357079 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O
RS141136371 GRHL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Corneal dystrophy
RS141137410 DYSF Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1411375176 MTO1 Health Risk Pathogenic Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
RS141137543 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS1411381518 TMEM70 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
RS141138349 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, VPS13A-related disorder
RS1411383758 HTRA2 Health Risk Pathogenic —
RS141138948 EXOSC3 Health Risk Pathogenic Pontocerebellar hypoplasia type 1B, Inborn genetic diseases
RS1411393602 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8
RS1411394625 NTHL1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS1411399067 POGZ Health Risk Likely pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS141139944 CPT1C Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 73, Hereditary spastic paraplegia 73
RS141140186 THSD1 Health Risk Conflicting classifications of pathogenicity —
RS141140214 PTPN11 Health Risk Conflicting classifications of pathogenicity Juvenile myelomonocytic leukemia, Metachondromatosis
RS141140309 TFR2 Health Risk Conflicting classifications of pathogenicity Hereditary hemochromatosis, Hemochromatosis type 3
RS141140415 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax
RS141140798 COL11A2 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Hearing impairment
RS141141442 CCDC78 Health Risk Conflicting classifications of pathogenicity Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases
RS141141719 DOK7 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS141141752 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group D2
RS141141839 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS141141860 ABCB4 Health Risk Conflicting classifications of pathogenicity —
RS141142206 ABCA12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141142414 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS141142633 SLC7A9 Health Risk Conflicting classifications of pathogenicity Cystinuria, Cystinuria
RS141142920 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS141143061 ATAD3B Health Risk Conflicting classifications of pathogenicity —
RS141144237 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS141144834 BMS1 Health Risk Conflicting classifications of pathogenicity —
RS1411448554 PHIP Health Risk Pathogenic/Likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1411454855 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS141145502 KCNJ11 Health Risk Pathogenic/Likely pathogenic Permanent neonatal diabetes mellitus, Diabetes mellitus
RS1411462678 FERMT1 Health Risk Pathogenic Kindler syndrome, Kindler syndrome
RS141146573 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Inborn genetic diseases
RS1411470197 PRPF31 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1411471923 MKS1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS141147618 FANCG Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group G
RS1411478607 SLC45A2 Health Risk Pathogenic —
RS141147863 DNAH8 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS141150066 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1411508959 IRF2BPL Health Risk Likely pathogenic —
RS141151519 ABCA1 Health Risk Conflicting classifications of pathogenicity Tangier disease, Hypoalphalipoproteinemia
RS141151675 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dilated cardiomyopathy 3B
RS141151998 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, Connective tissue disorder
RS141152043 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, GLDC-related disorder
RS141152495 SLC25A13 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, Citrin deficiency
RS141153056 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS141153181 CPLANE1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 17, Orofaciodigital syndrome type 6
RS141153302 SCN2A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 11
RS1411539218 NLRP5 Health Risk Pathogenic/Likely pathogenic Inherited oocyte maturation defect, Oocyte/zygote/embryo maturation arrest 19
RS1411544367 DDX41 Health Risk Pathogenic DDX41-related hematologic malignancy predisposition syndrome, DDX41-related disorder
RS1411545493 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS141154871 FAT1 Health Risk Conflicting classifications of pathogenicity FAT1-related disorder, FAT1-related disorder
RS141155552 TRRAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141155709 VIPAS39 Health Risk Conflicting classifications of pathogenicity Lung cancer, Lung cancer
RS1411557416 PITX3 Health Risk Pathogenic/Likely pathogenic Cataract 11, posterior polar
RS141155976 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS141156009 POLR1C Health Risk Pathogenic/Likely pathogenic Treacher Collins syndrome 3, Hypomyelinating leukodystrophy 11
RS1411572278 HPS3 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome
RS141157671 DNAI1 Health Risk Conflicting classifications of pathogenicity Kartagener syndrome, Primary ciliary dyskinesia
RS141158498 SLC26A4 Health Risk Pathogenic Pendred syndrome, Pendred syndrome
RS141158742 LDHA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency, LDHA-related disorder
RS1411588356 HMBS Health Risk Pathogenic —
RS141158872 HYI Health Risk Conflicting classifications of pathogenicity —
RS141158996 CFTR Health Risk Likely pathogenic Cystic fibrosis, CFTR-related disorder
RS1411591918 CEP104 Health Risk Pathogenic Intellectual developmental disorder, autosomal recessive 77
RS141159316 PITPNM3 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 5, Cone-rod dystrophy 5
RS1411593986 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1411597530 CBS Health Risk Likely pathogenic Classic homocystinuria, Classic homocystinuria
RS1411614521 RAD21 Health Risk Pathogenic Inborn genetic diseases, Cornelia de Lange syndrome 4
RS1411617809 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS1411627342 KCND3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Spinocerebellar ataxia type 19/22
RS141163529 TRIP12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141163578 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1411636529 SBDS Health Risk Likely pathogenic Shwachman-Diamond syndrome 1, Aplastic anemia
RS141163668 PTS Health Risk Pathogenic/Likely pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS141163823 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS1411638309 ABCC8 Health Risk Pathogenic/Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS141164185 HADHA Health Risk Conflicting classifications of pathogenicity Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS1411642835 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS141164483 COL11A2 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia
RS141164907 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS141165629 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS1411660488 FOXRED1 Health Risk Pathogenic —
RS141166149 REST Health Risk Conflicting classifications of pathogenicity —
RS141166207 SHPK Health Risk Conflicting classifications of pathogenicity Thyroid cancer, nonmedullary
RS1411667337 STRC Health Risk Pathogenic Rare genetic deafness, Deafness-infertility syndrome
RS1411667989 TFR2 Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS141166864 HNF1B Health Risk Conflicting classifications of pathogenicity Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS141167669 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS141168110 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS141168255 SRPX2 Health Risk Conflicting classifications of pathogenicity Rolandic epilepsy, intellectual disability
RS141168665 ANKRD11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KBG syndrome
RS141168886 MCOLN1 Health Risk Conflicting classifications of pathogenicity Mucolipidosis type IV, Mucolipidosis type IV
RS141169282 CAD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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