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
RS61755813 PRPH2 Health Risk Pathogenic Patterned macular dystrophy 1, Cone-rod dystrophy
RS61755814 PRPH2 Health Risk Pathogenic Macular dystrophy, Stargardt disease
RS61755815 PRPH2 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS61755816 PRPH2 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 7, Retinal dystrophy
RS61755817 PRPH2 Health Risk Likely pathogenic Retinitis pigmentosa, Vitelliform macular dystrophy 3
RS61755907 SH3PXD2B Health Risk Pathogenic —
RS61755909 DNAAF5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS61755997 NOTCH1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Aortic valve disease 1
RS61756006 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Sotos syndrome
RS61756136 ORC1 Health Risk Conflicting classifications of pathogenicity Meier-Gorlin syndrome 1, ORC1-related disorder
RS61756137 ORC1 Health Risk Conflicting classifications of pathogenicity Meier-Gorlin syndrome 1, Meier-Gorlin syndrome 1
RS61756139 ORC1 Health Risk Conflicting classifications of pathogenicity Meier-Gorlin syndrome 1, ORC1-related disorder
RS61756146 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS61756147 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS61756177 SOX10 Health Risk Conflicting classifications of pathogenicity —
RS61756249 TNPO3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1F, TNPO3-related disorder
RS61756250 TNPO3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1F, TNPO3-related disorder
RS61756286 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity Microcephaly 3, primary
RS61756293 CENPE Health Risk Conflicting classifications of pathogenicity —
RS61756328 BAG3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1HH
RS61756352 TRAP1 Health Risk Conflicting classifications of pathogenicity HER2 positive breast carcinoma, TRAP1-related disorder
RS61756403 POLH Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum variant type, Xeroderma pigmentosum variant type
RS61756416 PPM1D Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, PPM1D-related disorder
RS61756421 PPP1R12A Health Risk Conflicting classifications of pathogenicity Hepatocellular carcinoma, Hepatocellular carcinoma
RS61756463 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS61756465 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colon cancer
RS61756469 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS61756692 CNGA3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 2, Achromatopsia 2
RS61756766 TNFRSF13C Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS61757096 ITGA6 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, ITGA6-related disorder
RS61757108 ITPR1 Health Risk Conflicting classifications of pathogenicity ITPR1-related disorder, ITPR1-related disorder
RS61757111 ITPR1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Autosomal dominant cerebellar ataxia
RS61757218 DNAH8 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Spermatogenic failure 46
RS61757375 EPAS1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS61757383 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS61757384 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS61757397 FMO3 Health Risk Likely pathogenic Trimethylaminuria, Trimethylaminuria
RS61757472 ADAMTS10 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Weill-Marchesani syndrome
RS61757480 ADAMTS3 Health Risk Pathogenic Hennekam lymphangiectasia-lymphedema syndrome 3, Hennekam lymphangiectasia-lymphedema syndrome 3
RS61757582 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS61757585 DHX30 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with severe motor impairment and absent language, Inborn genetic diseases
RS61757616 DLL1 Health Risk Conflicting classifications of pathogenicity DLL1-related disorder, Thyroid cancer
RS61757643 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS61757664 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 11, Cardiovascular phenotype
RS61757671 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS61757674 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS61757683 ALDH4A1 Health Risk Conflicting classifications of pathogenicity Hyperprolinemia type 2, Hyperprolinemia type 2
RS61757685 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Inborn genetic diseases
RS61757689 ALDOB Health Risk Conflicting classifications of pathogenicity Hereditary fructosuria, ALDOB-related disorder
RS61757825 RAB18 Health Risk Conflicting classifications of pathogenicity Warburg micro syndrome 3, RAB18-related disorder
RS61758020 PIK3C2B Health Risk Conflicting classifications of pathogenicity PIK3C2B-related disorder, PIK3C2B-related disorder
RS61758084 TPO Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS61758118 TRPA1 Health Risk Conflicting classifications of pathogenicity Gastric cancer, Gastric cancer
RS61758122 TRPA1 Health Risk Conflicting classifications of pathogenicity —
RS61758125 TRPS1 Health Risk Conflicting classifications of pathogenicity Trichorhinophalangeal syndrome, type III
RS61758195 MME Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2T, Charcot-Marie-Tooth disease axonal type 2T
RS61758368 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity Microcephaly 3, primary
RS61758376 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS61758405 TYRP1 Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 3, TYRP1-related disorder
RS61758415 DNAH8 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, DNAH8-related disorder
RS61758433 DNMT3B Health Risk Conflicting classifications of pathogenicity Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Centromeric instability of chromosomes 1
RS61758444 DPYS Health Risk Pathogenic/Likely pathogenic Dihydropyrimidinase deficiency, Dihydropyrimidinase deficiency
RS61758518 NPR2 Health Risk Conflicting classifications of pathogenicity Acromesomelic dysplasia 1, Maroteaux type
RS61758531 NPR2 Health Risk Pathogenic/Likely pathogenic Acromesomelic dysplasia 1, Maroteaux type
RS61758785 RAD51B Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, RAD51B-related disorder
RS61758858 SCNN1A Health Risk Conflicting classifications of pathogenicity Bronchiectasis with or without elevated sweat chloride 2, Pseudohypoaldosteronism
RS61758863 AMPD1 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, AMPD1-related disorder
RS61758865 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS61758866 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS61758977 GHR Health Risk Conflicting classifications of pathogenicity GHR-related disorder, Inborn genetic diseases
RS61758992 GPSM2 Health Risk Conflicting classifications of pathogenicity GPSM2-related disorder, GPSM2-related disorder
RS61758996 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS61759469 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Inborn genetic diseases
RS61759495 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome
RS61759860 SCNN1A Health Risk Pathogenic Bronchiectasis with or without elevated sweat chloride 2, Bronchiectasis with or without elevated sweat chloride 2
RS61759892 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome
RS61759913 SCNN1A Health Risk Pathogenic/Likely pathogenic Neurodevelopmental delay, Renal tubulopathies
RS61759916 SCNN1B Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism, type IB1
RS61759917 SCNN1B Health Risk Conflicting classifications of pathogenicity Liddle syndrome 1, Pseudohypoaldosteronism
RS61760162 ERCC4 Health Risk Conflicting classifications of pathogenicity Cockayne syndrome, Fanconi anemia complementation group Q
RS61760163 ERCC6 Health Risk Conflicting classifications of pathogenicity 7 conditions, Inborn genetic diseases
RS61760166 ERCC6 Health Risk Conflicting classifications of pathogenicity Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2
RS61760167 ERCC6 Health Risk Conflicting classifications of pathogenicity Cockayne syndrome type 2, Cerebrooculofacioskeletal syndrome 1
RS61760172 ESRRB Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 35, ESRRB-related disorder
RS61760194 UBE3B Health Risk Pathogenic —
RS61760905 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS61760965 PCCA Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Sarcoma
RS61760967 PCK1 Health Risk Conflicting classifications of pathogenicity Phosphoenolpyruvate carboxykinase deficiency, cytosolic
RS61761068 PIK3R5 Health Risk Conflicting classifications of pathogenicity Ataxia with oculomotor apraxia type 3, Ataxia with oculomotor apraxia type 3
RS61761321 EDAR Health Risk Conflicting classifications of pathogenicity Hypohidrotic ectodermal dysplasia, Non-syndromic oligodontia
RS61761620 WDR11 Health Risk Conflicting classifications of pathogenicity WDR11-related disorder, WDR11-related disorder
RS61761632 XPO1 Health Risk Conflicting classifications of pathogenicity XPO1-associated Neurodevelopmental Disorder, XPO1-associated Neurodevelopmental Disorder
RS61761869 SERPINA1 Health Risk Pathogenic/Likely pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS61761944 SKIC2 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS61762293 RPS19 Health Risk Pathogenic Diamond-Blackfan anemia 1, Diamond-Blackfan anemia
RS61762303 GCH1 Health Risk Pathogenic Dystonia 5, GTP cyclohydrolase I deficiency
RS61762498 GH1 Health Risk Conflicting classifications of pathogenicity Decreased response to growth hormone stimulation test, Decreased response to growth hormone stimulation test
RS61762969 XRCC2 Health Risk Conflicting classifications of pathogenicity Colon cancer, Hereditary cancer-predisposing syndrome
RS61764068 BBS9 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 9
RS6177 GHR Health Risk Conflicting classifications of pathogenicity Short stature due to partial GHR deficiency, Laron-type isolated somatotropin defect
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