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
RS750268044 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS750268759 TNRC6B Health Risk Pathogenic Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
RS750269236 GHSR Health Risk Conflicting classifications of pathogenicity Short stature due to growth hormone secretagogue receptor deficiency, Short stature due to growth hormone secretagogue receptor deficiency
RS750269576 SCN9A Health Risk Conflicting classifications of pathogenicity 6 conditions, Neuropathy
RS750272621 SDCCAG8 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
RS750273092 FH Health Risk Likely pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome
RS750273506 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS750274275 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS750275170 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS750275456 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS750276279 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS750277154 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS750278602 TTN Health Risk Conflicting classifications of pathogenicity TTN-related disorder, TTN-related disorder
RS750279128 RELN Health Risk Pathogenic Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS750279232 APP Health Risk Conflicting classifications of pathogenicity Alzheimer disease, Alzheimer disease
RS750279410 RECQL Health Risk Conflicting classifications of pathogenicity RECON progeroid syndrome, RECON progeroid syndrome
RS750279631 AKT3 Health Risk Conflicting classifications of pathogenicity Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Inborn genetic diseases
RS750279642 LONP1 Health Risk Conflicting classifications of pathogenicity —
RS750280055 IGF1R Health Risk Conflicting classifications of pathogenicity Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
RS750280281 NPHP3 Health Risk Conflicting classifications of pathogenicity Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis
RS750280339 CTSB Health Risk Conflicting classifications of pathogenicity —
RS75028043 GHR Health Risk Conflicting classifications of pathogenicity Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect
RS750280554 KCNB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 26
RS750281602 SLC39A14 Health Risk Pathogenic Hypermanganesemia with dystonia 2, Hypermanganesemia with dystonia 2
RS750281789 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS750282687 RAD51D Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS750284532 NR2E3 Health Risk Conflicting classifications of pathogenicity —
RS750284952 SRPX Health Risk Conflicting classifications of pathogenicity —
RS750285313 NDUFS1 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 5
RS750285967 TMPRSS15 Health Risk Conflicting classifications of pathogenicity —
RS750286012 LETM1 Health Risk Pathogenic LETM1-associated clinical spectrum with predominant nervous system involvement, Neurodegeneration
RS750286179 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS750286630 HSD3B2 Health Risk Conflicting classifications of pathogenicity 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency
RS750287289 INVS Health Risk Likely pathogenic Infantile nephronophthisis, Infantile nephronophthisis
RS750287727 GFM1 Health Risk Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS75028796 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS750289236 MYH3 Health Risk Pathogenic —
RS750290204 CSGALNACT1 Health Risk Pathogenic —
RS750291363 COL11A1 Health Risk Conflicting classifications of pathogenicity Intervertebral disc disorder, Hearing loss
RS750291418 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS750291645 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS750291697 KHDRBS1 Health Risk Likely pathogenic Premature ovarian failure, Premature ovarian failure
RS750292508 RASGRP1 Health Risk Pathogenic —
RS750292546 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C
RS750293380 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS750294252 NGLY1 Health Risk Pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS750294275 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS750294638 GJA1 Health Risk Conflicting classifications of pathogenicity Oculodentodigital dysplasia, autosomal recessive
RS750296552 DNM1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A
RS750296853 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Fibromatosis
RS750297310 SGCA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS750298083 TTN Health Risk Conflicting classifications of pathogenicity —
RS750298260 GOSR2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Progressive myoclonic epilepsy
RS75030001 RET Health Risk Pathogenic Multiple endocrine neoplasia type 2A, Familial medullary thyroid carcinoma
RS750301200 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Inborn genetic diseases
RS750302536 PCDH15 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1F
RS750302661 CR2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS750303653 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS750303767 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS750305530 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS750306743 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS750308686 COL4A3 Health Risk Pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS750308729 YIF1B Health Risk Pathogenic Kaya-Barakat-Masson syndrome, Kaya-Barakat-Masson syndrome
RS750309571 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS750309713 BCHE Health Risk Pathogenic Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
RS750311213 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS750312986 GRN Health Risk Pathogenic Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS75031300 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS750313305 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS750315709 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KAT6A-related disorder
RS750315914 PIGQ Health Risk Pathogenic Epilepsy, Epilepsy
RS750318549 ASXL1 Health Risk Pathogenic/Likely pathogenic Bohring-Opitz syndrome, Abnormal brain morphology
RS750318685 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS750318922 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS750319167 RARS2 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS750319602 COPA Health Risk Conflicting classifications of pathogenicity Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases
RS750320516 FRMD7 Health Risk Conflicting classifications of pathogenicity Nystagmus 1, congenital
RS750321216 SPAG1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 28, Primary ciliary dyskinesia
RS750321557 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS750322384 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS750323164 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS750323424 MTHFR Health Risk Pathogenic/Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects
RS750323428 PDE6B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2
RS750323931 AFF4 Health Risk Conflicting classifications of pathogenicity Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome, Inborn genetic diseases
RS750324091 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750324117 AR Health Risk Pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS750324212 ANTXR2 Health Risk Pathogenic Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome
RS750325275 CLASP1;CLASP1-AS1;RNU4ATAC Health Risk Pathogenic/Likely pathogenic Roifman syndrome, Osteodysplastic primordial dwarfism
RS750325388 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS750325978 DNMT3A Health Risk Likely pathogenic Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS750326578 GATAD2B Health Risk Conflicting classifications of pathogenicity GATAD2B-related disorder, GATAD2B-related disorder
RS750326619 ALMS1 Health Risk Pathogenic Alstrom syndrome, Cardiovascular phenotype
RS750326949 STIM1 Health Risk Conflicting classifications of pathogenicity Stormorken syndrome, Combined immunodeficiency due to STIM1 deficiency
RS750327994 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS750328754 LAMA2 Health Risk Pathogenic Abnormality of the musculature, LAMA2-related muscular dystrophy
RS750328756 C2CD3 Health Risk Pathogenic/Likely pathogenic Orofaciodigital syndrome type 14, Orofaciodigital syndrome type 14
RS750329103 CHRNA1 Health Risk Pathogenic Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS750329453 SCN4B Health Risk Conflicting classifications of pathogenicity Long QT syndrome 10, Cardiovascular phenotype
RS750329563 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11
RS750330550 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 2, Long QT syndrome
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