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
RS764495616 CLN5 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis
RS764496155 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS764496230 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, DNMT1-related disorder
RS76449634 RET Health Risk Pathogenic Hirschsprung disease, susceptibility to
RS764497467 TBX1 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, DiGeorge syndrome
RS764497513 CHAT Health Risk Pathogenic/Likely pathogenic Familial infantile myasthenia, Congenital myasthenic syndrome
RS764497524 GNB4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate F
RS764497659 PJVK Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 59, Autosomal recessive nonsyndromic hearing loss 59
RS764498622 SETD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Inborn genetic diseases
RS764500338 IARS1 Health Risk Pathogenic Growth retardation, intellectual developmental disorder
RS764501022 ANKRD11 Health Risk Pathogenic ANKRD11-related disorder, Global developmental delay
RS764501046 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS764502383 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS764503373 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS764506114 FBXO11 Health Risk Conflicting classifications of pathogenicity —
RS764506321 NSD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764506732 TRIT1 Health Risk Likely pathogenic Combined oxidative phosphorylation deficiency 35, Combined oxidative phosphorylation deficiency 35
RS764507012 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS764507146 FANCD2 Health Risk Pathogenic Fanconi anemia complementation group D2, Fanconi anemia
RS764507196 UNC13D Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 3, See cases
RS764507216 MYO3A Health Risk Pathogenic —
RS764507532 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS764508785 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS764509489 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS764509824 DNAH11 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS764509990 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS764511452 DNAAF1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 13, Primary ciliary dyskinesia
RS76451285 F13A1 Health Risk Conflicting classifications of pathogenicity Factor XIII, A subunit
RS764513998 ABCB4 Health Risk Likely pathogenic Cholestasis, intrahepatic
RS764514210 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS764514397 TTC21B Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 4, Nephronophthisis 12
RS764514762 TG Health Risk Pathogenic —
RS764514988 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS764515827 RASA1 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation syndrome, Cardiovascular phenotype
RS764517474 FAM161A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS764517475 DUOX2 Health Risk Likely pathogenic —
RS764518030 CHD7 Health Risk Conflicting classifications of pathogenicity CHD7-related disorder, CHARGE syndrome
RS764518202 CRADD Health Risk Pathogenic —
RS764519472 FANCF Health Risk Likely pathogenic Fanconi anemia complementation group F, Fanconi anemia complementation group F
RS764520289 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS764521226 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS764521300 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS764521635 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS764523123 KCNJ2 Health Risk Likely pathogenic —
RS764523283 ARL6 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 3, Retinitis pigmentosa 55
RS764524104 ACADSB Health Risk Likely pathogenic Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase
RS764524653 COL6A3 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS764524783 GRIA3 Health Risk Conflicting classifications of pathogenicity Syndromic X-linked intellectual disability 94, Syndromic X-linked intellectual disability 94
RS764524918 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS764525244 MAP3K1 Health Risk Conflicting classifications of pathogenicity 46, XY sex reversal 6
RS764526102 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS764526355 LIAS Health Risk Conflicting classifications of pathogenicity Lipoic acid synthetase deficiency, Inborn genetic diseases
RS764526789 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS764526847 SETBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764527357 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS764527438 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS764527541 FKRP Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype
RS764527706 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS764527957 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS764529584 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS764529662 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS764529922 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS764530848 CIROP Health Risk Pathogenic Heterotaxy, visceral
RS764530865 LDB3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 4
RS764531754 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS76453279 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS764533757 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS764534524 CYP11B1 Health Risk Conflicting classifications of pathogenicity Deficiency of steroid 11-beta-monooxygenase, Glucocorticoid-remediable aldosteronism
RS764534989 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS764536885 TULP1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 15, Leber congenital amaurosis 15
RS764538619 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS764538703 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS764538938 FLNB Health Risk Conflicting classifications of pathogenicity —
RS764539113 CFH Health Risk Conflicting classifications of pathogenicity CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Hemolytic uremic syndrome
RS764539241 OTUD6B Health Risk Pathogenic —
RS764539267 GYS2 Health Risk Likely pathogenic Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency
RS764539989 FLNC Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS764540699 CDKL5;RS1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 2
RS764541059 COQ8A Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS764542651 ITGB4 Health Risk Likely pathogenic —
RS76454301 ALB Health Risk Pathogenic Analbuminemia, Analbuminemia
RS764543553 VWF Health Risk Likely pathogenic von Willebrand disease type 3, Hereditary von Willebrand disease
RS764543567 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS764544440 SNRNP200 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764544747 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS764544769 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy
RS764544992 SLC45A2 Health Risk Likely pathogenic Oculocutaneous albinism type 4, SKIN/HAIR/EYE PIGMENTATION 5
RS764546116 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS764546127 PROC Health Risk Pathogenic Thrombophilia due to protein C deficiency, autosomal dominant
RS764546937 ASL Health Risk Pathogenic/Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS764547244 RB1 Health Risk Pathogenic Hereditary retinoblastoma, Hereditary retinoblastoma
RS764548516 CLDN14 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 29, Autosomal recessive nonsyndromic hearing loss 29
RS764548800 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS764551108 CEP290 Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS764551615 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS764551914 CCDC40 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS764552042 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS764552529 WT1 Health Risk Conflicting classifications of pathogenicity Drash syndrome, Frasier syndrome
RS764552856 SATB2 Health Risk Conflicting classifications of pathogenicity Chromosome 2q32-q33 deletion syndrome, Inborn genetic diseases
RS764554048 GRIN1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
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