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
RS149515874 VCAN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149516921 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149517113 SLC40A1 Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 4, Inborn genetic diseases
RS149517238 BAG3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1HH
RS149517613 TARDBP Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS
RS149518280 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS149519053 GRM6 Health Risk Conflicting classifications of pathogenicity Ovarian serous cystadenocarcinoma, Ovarian serous cystadenocarcinoma
RS149519060 SH3PXD2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SH3PXD2B-related disorder
RS149520110 CYP11B1 Health Risk Conflicting classifications of pathogenicity Glucocorticoid-remediable aldosteronism, Deficiency of steroid 11-beta-monooxygenase
RS149520391 ADA Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS149521185 MYO3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149521594 SPTB Health Risk Conflicting classifications of pathogenicity —
RS149521997 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, SLC22A5-related disorder
RS149522412 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group N
RS149522482 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS149523263 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy
RS149523862 ATP7A Health Risk Conflicting classifications of pathogenicity Cutis laxa, X-linked
RS149524007 TBC1D2B Health Risk Likely pathogenic TBC1D2B-related disorder, TBC1D2B-related disorder
RS149524398 LRP5 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Osteogenesis imperfecta
RS149525610 DOK7 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS149525720 EFEMP2 Health Risk Conflicting classifications of pathogenicity Cutis laxa, autosomal recessive
RS149525864 SLC5A2 Health Risk Conflicting classifications of pathogenicity Familial renal glucosuria, Familial renal glucosuria
RS149527139 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Usher syndrome type 2A
RS149528532 STING1 Health Risk Conflicting classifications of pathogenicity STING-associated vasculopathy with onset in infancy, Inborn genetic diseases
RS149529031 USH1G Health Risk Conflicting classifications of pathogenicity Hearing impairment, Usher syndrome type 1G
RS149529390 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS149529997 TPP1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 2, Autosomal recessive spinocerebellar ataxia 7
RS149530060 PMM2 Health Risk Pathogenic PMM2-congenital disorder of glycosylation, PMM2-related disorder
RS149530842 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS149531438 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS149532038 KRT12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149533093 TGFB2 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 4, Aortic aneurysm
RS149533467 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, CBL-related disorder
RS149534277 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS149535475 VLDLR Health Risk Likely pathogenic Cerebellar ataxia, intellectual disability
RS149535568 PLD1 Health Risk Conflicting classifications of pathogenicity —
RS149535960 NLRP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149536158 TDRD7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cataract 36
RS149536991 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS149537312 RECQL Health Risk Conflicting classifications of pathogenicity —
RS149537608 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS149537641 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS149538231 ARID1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149538586 STAT3 Health Risk Conflicting classifications of pathogenicity Hyper-IgE recurrent infection syndrome 1, autosomal dominant
RS149540339 LRSAM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease
RS149540566 POMC Health Risk Conflicting classifications of pathogenicity Obesity, Obesity due to pro-opiomelanocortin deficiency
RS149541658 SLC27A5 Health Risk Conflicting classifications of pathogenicity —
RS149542398 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype
RS149543046 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS149543159 GLDN Health Risk Likely pathogenic GLDN-related disorder, GLDN-related disorder
RS149543947 GLI3 Health Risk Conflicting classifications of pathogenicity Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS149544539 GRIN2D Health Risk Conflicting classifications of pathogenicity —
RS149545036 GLIS3 Health Risk Conflicting classifications of pathogenicity Neonatal diabetes mellitus with congenital hypothyroidism, GLIS3-related disorder
RS149545861 EPS15L1 Health Risk Conflicting classifications of pathogenicity —
RS149546014 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS149547604 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS149549228 GRIA1 Health Risk Likely pathogenic —
RS149549442 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS149551600 COMP Health Risk Pathogenic Multiple epiphyseal dysplasia, Multiple epiphyseal dysplasia
RS149551759 FANCA Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS149553146 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS149553844 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 39, Retinitis pigmentosa
RS149554430 ACTN2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1AA
RS149554935 GLI2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Holoprosencephaly 9
RS149558159 WHRN Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31
RS149558692 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS149558726 COL11A1 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 1, Stickler syndrome type 2
RS149558986 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS149559898 TNNT1 Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 5, Nemaline myopathy 5
RS149560153 MYH9 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder
RS149561185 ELAC2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 17, Prostate cancer
RS149561461 KCNH5 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS149561952 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, Congenital ichthyosis of skin
RS149562759 PSEN1 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1U, Alzheimer disease 3
RS149562813 TRIP11 Health Risk Pathogenic/Likely pathogenic Achondrogenesis, type IA
RS149564430 CNTN2 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial adult myoclonic
RS149564550 HPS5 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 5, HPS5-related disorder
RS149565664 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS149565907 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS149566576 OTOF Health Risk Conflicting classifications of pathogenicity —
RS149566858 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 1
RS149566909 FANCC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia
RS149566955 NUP210 Health Risk Conflicting classifications of pathogenicity —
RS149567378 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Tibial muscular dystrophy
RS149567782 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia, Inborn genetic diseases
RS149568072 MAGI2 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome 15, MAGI2-related disorder
RS149568223 F11 Health Risk Conflicting classifications of pathogenicity Hereditary factor XI deficiency disease, Plasma factor XI deficiency
RS149569288 GATA6 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Atrioventricular septal defect 5
RS149569330 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, ANKRD11-related disorder
RS149569984 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS149569999 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS149570645 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS149571560 NEFH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, NEFH-related disorder
RS149572348 ADAM9 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 9, Cone-rod dystrophy 9
RS149574256 COG5 Health Risk Conflicting classifications of pathogenicity COG5-congenital disorder of glycosylation, Sarcoma
RS149577148 HUWE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149577588 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS149577978 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, RAD50-related disorder
RS149580135 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS149580265 ANO10 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10
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