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
RS376626935 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Polyps
RS376626985 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Wolfram-like syndrome
RS376627126 MARVELD2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 49, Autosomal recessive nonsyndromic hearing loss 49
RS376627489 NIN Health Risk Conflicting classifications of pathogenicity —
RS376628082 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS376628499 PSAP Health Risk Conflicting classifications of pathogenicity Krabbe disease due to saposin A deficiency, Combined PSAP deficiency
RS376628500 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS376629999 IL10RA Health Risk Conflicting classifications of pathogenicity Inflammatory bowel disease 28, Inborn genetic diseases
RS376630030 CUL7 Health Risk Conflicting classifications of pathogenicity 3M syndrome 1, 3M syndrome 1
RS376630127 OPA3 Health Risk Conflicting classifications of pathogenicity —
RS376630194 F11 Health Risk Conflicting classifications of pathogenicity Hereditary factor XI deficiency disease, Plasma factor XI deficiency
RS376630432 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS376630473 MYO15A Health Risk Conflicting classifications of pathogenicity —
RS376630579 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS376631391 HCN4 Health Risk Conflicting classifications of pathogenicity Cardiac arrest, Brugada syndrome 8
RS376631476 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS3766317 STIL Health Risk Conflicting classifications of pathogenicity Microcephaly 7, primary
RS376632173 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Inborn genetic diseases
RS376632263 DKC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Dyskeratosis congenita
RS376632574 ABCB11 Health Risk Likely pathogenic Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS376632767 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS376632839 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS376633284 STAR Health Risk Conflicting classifications of pathogenicity Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS376633374 FSCN2 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 30, Leber congenital amaurosis
RS376633424 WDR62 Health Risk Pathogenic —
RS376634193 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS376634713 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS376635152 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS376635652 MUSK Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1
RS376636291 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, LOXHD1-related disorder
RS376636502 MARS1 Health Risk Conflicting classifications of pathogenicity Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U
RS376636910 COL4A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376636949 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS3766379 CD244 Health Risk risk factor Rheumatoid arthritis, Rheumatoid arthritis
RS376638283 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS376638940 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ZNF469-related disorder
RS376639281 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS376639978 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS376640377 WNT5A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376640553 KCNJ5 Health Risk Conflicting classifications of pathogenicity Familial hyperaldosteronism type III, Familial hyperaldosteronism type III
RS376641196 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS376641216 CHAT Health Risk Conflicting classifications of pathogenicity Familial infantile myasthenia, Inborn genetic diseases
RS376641234 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS376641474 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS376641868 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS376642208 CHRND Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS376643015 OPA1 Health Risk Pathogenic —
RS376643618 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS376644135 FREM1 Health Risk Conflicting classifications of pathogenicity Oculotrichoanal syndrome, BNAR syndrome
RS376644553 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS376644970 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS376645523 CEP290 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS376645617 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS376647978 DDC Health Risk Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS376648777 DOCK6 Health Risk Pathogenic —
RS376649198 TNK2 Health Risk Conflicting classifications of pathogenicity —
RS376649412 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS376649488 PEX5 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 2A (Zellweger), Peroxisome biogenesis disorder 2B
RS376651004 DTNA Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 1, Left ventricular noncompaction 1
RS376651419 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS376651641 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Generalized juvenile polyposis/juvenile polyposis coli
RS376651720 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS376653237 DNAJC21 Health Risk Likely pathogenic —
RS376653349 SLC26A4 Health Risk Pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS376653399 DNAH1 Health Risk Likely pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS376653409 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypobetalipoproteinemia, Hypercholesterolemia
RS376653815 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS376654190 PGAM4 Health Risk Conflicting classifications of pathogenicity —
RS376654625 RPL3L Health Risk Pathogenic Cardiomyopathy, dilated
RS376655102 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS376656512 JMJD1C Health Risk Conflicting classifications of pathogenicity Early myoclonic encephalopathy, Early myoclonic encephalopathy
RS376656751 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS376658420 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS376658460 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS376659221 SGCD Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F
RS376659273 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Joubert syndrome 7, Nephronophthisis 8
RS376659281 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder
RS376659578 COG8 Health Risk Conflicting classifications of pathogenicity COG8-congenital disorder of glycosylation, COG8-congenital disorder of glycosylation
RS376661693 ACAT1 Health Risk Conflicting classifications of pathogenicity Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS376662045 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS376663459 COG4 Health Risk Pathogenic/Likely pathogenic COG4-congenital disorder of glycosylation, COG4-Related Disorders
RS376663560 TJP2 Health Risk Conflicting classifications of pathogenicity Cholestasis, progressive familial intrahepatic
RS376663785 GLB1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, GM1 gangliosidosis type 3
RS376663839 LTBP2 Health Risk Conflicting classifications of pathogenicity Glaucoma 3, primary congenital
RS376664046 FLG2 Health Risk Conflicting classifications of pathogenicity —
RS376664058 COL9A1 Health Risk Conflicting classifications of pathogenicity —
RS376664167 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS376664318 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS376665590 TCF20 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376665722 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS376665854 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex
RS376666221 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS376667075 MSH3 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS376667778 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS376668219 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS376669368 SCN1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS376670171 MC1R Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, Melanoma
RS376670657 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS376671385 ATP6V1B2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS376672264 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
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