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
RS750201480 QDPR Health Risk Pathogenic/Likely pathogenic Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency
RS750203389 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS750203541 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS750203675 NEU1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750203677 COL1A1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Osteogenesis imperfecta type I
RS750204106 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS7502059 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS750206820 SLC35A3 Health Risk Pathogenic Autism spectrum disorder - epilepsy - arthrogryposis syndrome, Autism spectrum disorder - epilepsy - arthrogryposis syndrome
RS750207077 TDRD7 Health Risk Pathogenic Cataract 36, Cataract 36
RS750209664 SCN1A Health Risk Pathogenic/Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS750210485 SORD Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS750211727 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS750212705 FANCG Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group G
RS750212973 PHYH Health Risk Pathogenic —
RS750213029 LZTR1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS750213547 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, TTN-related disorder
RS750214113 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS750214208 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS750214431 ASS1 Health Risk Pathogenic Citrullinemia type I, Citrullinemia
RS750214847 ABCA12 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 4A, Autosomal recessive congenital ichthyosis 4A
RS750215526 WDR19 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 5, Cranioectodermal dysplasia 4
RS750215904 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS750216083 SVBP Health Risk Likely pathogenic SVBP-related disorder, SVBP-related disorder
RS750216784 CREBBP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Rubinstein-Taybi syndrome
RS750217875 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS750218942 XPA Health Risk Pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum
RS750219200 RAD51D Health Risk Pathogenic Breast-ovarian cancer, familial
RS750219615 LSM7 Health Risk Pathogenic Leukodystrophy, LSM7-related leukodystrophy and cerebellar atrophy
RS750219987 RSPH4A Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS750220338 CYP1B1 Health Risk Conflicting classifications of pathogenicity Congenital glaucoma, Congenital glaucoma
RS750220830 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS750221380 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome 1, Hereditary cancer-predisposing syndrome
RS750221808 MNS1 Health Risk Likely pathogenic Heterotaxy, visceral
RS750222217 CC2D1A Health Risk Pathogenic —
RS750222574 CNGB1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 45, Retinitis pigmentosa 45
RS750224234 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS750225476 SPINK5 Health Risk Pathogenic Netherton syndrome, Netherton syndrome
RS750225643 SLC25A13 Health Risk Pathogenic Citrin deficiency, Citrin deficiency
RS750225817 CNGB1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 45
RS750226076 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia
RS750226213 UNC80 Health Risk Pathogenic Hypotonia, infantile
RS750227063 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS750227698 VWA1 Health Risk Pathogenic —
RS750227810 OFD1 Health Risk Likely pathogenic Joubert syndrome, Orofaciodigital syndrome I
RS750227861 KCNJ10 Health Risk Conflicting classifications of pathogenicity EAST syndrome, EAST syndrome
RS750228923 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS750229142 ZMPSTE24 Health Risk Conflicting classifications of pathogenicity —
RS75022916 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS750229518 PTS;TEX12 Health Risk Pathogenic/Likely pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS750230820 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750231498 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS750232956 MYH2 Health Risk Conflicting classifications of pathogenicity Myopathy, proximal
RS750233571 PNPLA2 Health Risk Conflicting classifications of pathogenicity Neutral lipid storage myopathy, Neutral lipid storage myopathy
RS75023630 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS750236367 MAN1B1 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Rafiq syndrome
RS750237658 TOPORS Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 31
RS750238787 CR2 Health Risk Pathogenic Immunodeficiency, common variable
RS750239776 ZNF142 Health Risk Likely pathogenic Neurodevelopmental disorder with impaired speech and hyperkinetic movements, Neurodevelopmental disorder with impaired speech and hyperkinetic movements
RS750240374 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS750242131 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS750242979 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Familial cancer of breast
RS750245108 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS750245529 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS750247163 MED23 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 18
RS750247691 ARMC9 Health Risk Conflicting classifications of pathogenicity ARMC9-related Joubert syndrome, Joubert syndrome 30
RS750249747 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS750249796 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS750249799 NKX2-5 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Cardiovascular phenotype
RS750251152 NEFL Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1F, Charcot-Marie-Tooth disease
RS750251384 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS750252271 RELN Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS750253749 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS750254727 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS750255126 POLE Health Risk Conflicting classifications of pathogenicity —
RS750255359 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS750255505 EMC1 Health Risk Likely pathogenic —
RS750256116 CTCF Health Risk Likely pathogenic CTCF-related neurodevelopmental disorder, CTCF-related neurodevelopmental disorder
RS750256343 CPLANE1 Health Risk Pathogenic —
RS750257554 CNGB3 Health Risk Likely pathogenic Achromatopsia, Achromatopsia 3
RS750257902 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS750258633 BBS4 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 4
RS750258756 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Primary dilated cardiomyopathy
RS750259620 RAB18 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750260160 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS750260341 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Vesicoureteral reflux 8
RS750260438 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS750260671 WNT10A Health Risk Pathogenic/Likely pathogenic Odonto-onycho-dermal dysplasia, Tooth agenesis
RS750261457 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS750261857 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome
RS750262029 COL7A1 Health Risk Pathogenic —
RS750262940 DOK7 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS750264224 AGXT Health Risk Pathogenic Primary hyperoxaluria, type I
RS750264231 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS750264813 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS750264852 KCNH1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750265350 BMPER Health Risk Conflicting classifications of pathogenicity Diaphanospondylodysostosis, Diaphanospondylodysostosis
RS750265500 PPP2R5D Health Risk Conflicting classifications of pathogenicity —
RS750265990 RNASET2 Health Risk Conflicting classifications of pathogenicity Cystic leukoencephalopathy without megalencephaly, Cystic leukoencephalopathy without megalencephaly
RS750266004 SYNE1 Health Risk Pathogenic Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS750266350 TOE1 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 7, TOE1-related disorder
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