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
RS762855622 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS762857737 PHIP Health Risk Likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS762858023 TNC Health Risk Conflicting classifications of pathogenicity —
RS762859509 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS762859894 ACAD9 Health Risk Pathogenic —
RS762859925 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS762860653 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS762861196 LAMA3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa gravis of Herlitz, Laryngo-onycho-cutaneous syndrome
RS762863150 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS762863861 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS762864856 GLRA1 Health Risk Pathogenic Hyperekplexia 1, Hyperekplexia 1
RS76286489 TGM6 Health Risk Conflicting classifications of pathogenicity —
RS762865001 NEU1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762865950 IFIH1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
RS762866205 ARHGAP24 Health Risk Conflicting classifications of pathogenicity —
RS762866453 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS762867111 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A1-related disorder
RS762867923 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS762868036 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS762868199 AHNAK2 Health Risk Conflicting classifications of pathogenicity —
RS762869685 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinal dystrophy
RS762870190 NSD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762871408 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762871779 SRP54 Health Risk Conflicting classifications of pathogenicity —
RS762871906 TOPORS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS762873423 TRNT1 Health Risk Pathogenic Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
RS762873425 ZNF225 Health Risk Conflicting classifications of pathogenicity —
RS762873672 CYP2U1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 56, Spastic paraplegia
RS762873763 DYNC2H1 Health Risk Pathogenic Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS762873839 CLN5 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5
RS762874007 ANO5 Health Risk Pathogenic/Likely pathogenic Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS762874073 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS762874609 PIEZO2 Health Risk Conflicting classifications of pathogenicity —
RS762875633 TCF20 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762875734 CHRND Health Risk Pathogenic/Likely pathogenic Lethal multiple pterygium syndrome, Congenital myasthenic syndrome 3C
RS762876022 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS762876355 ABCB7 Health Risk Likely pathogenic X-linked sideroblastic anemia with ataxia, Nonpapillary renal cell carcinoma
RS762876554 LHFPL5 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 67, Hearing loss
RS762876815 KDM6B Health Risk Pathogenic Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
RS762877422 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS762879329 SLC18A2 Health Risk Likely pathogenic Abnormal brain morphology, Abnormal brain morphology
RS762879569 PANK2 Health Risk Conflicting classifications of pathogenicity Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS762879895 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS762881892 NEB Health Risk Pathogenic/Likely pathogenic Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS762881899 DONSON Health Risk Likely pathogenic —
RS762884881 NEBL Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS762885128 PIGO Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 2, Inborn genetic diseases
RS762885546 ECHS1 Health Risk Conflicting classifications of pathogenicity Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS762885804 ERCC4 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group F
RS762885961 TTC21B Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Nephronophthisis
RS762886975 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group D1
RS762887399 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS762887805 CLCN2 Health Risk Likely pathogenic Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Leukoencephalopathy with mild cerebellar ataxia and white matter edema
RS762887911 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS762888022 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS762889441 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS762889850 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS762890510 SETBP1 Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS762890562 DDX41 Health Risk Pathogenic/Likely pathogenic Acute myeloid leukemia, DDX41-related hematologic malignancy predisposition syndrome
RS762891322 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS762891600 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS762892362 HEXB Health Risk Pathogenic/Likely pathogenic Sandhoff disease, Sandhoff disease
RS762894736 PTS Health Risk Conflicting classifications of pathogenicity 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, Inborn genetic diseases
RS762896797 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS762896810 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Brugada syndrome 3
RS762898113 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS762898505 FOXP1 Health Risk Conflicting classifications of pathogenicity FOXP1-related disorder, FOXP1-related disorder
RS762899641 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS762900005 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS762900727 COQ8A Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS762900875 FLG2 Health Risk Conflicting classifications of pathogenicity —
RS762900894 NPHS2 Health Risk Conflicting classifications of pathogenicity Kidney disorder, Kidney disorder
RS762901763 MTTP Health Risk Pathogenic Abetalipoproteinaemia, MTTP-related disorder
RS762902309 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS762902447 SPTB Health Risk Likely pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS762902803 PDSS1 Health Risk Conflicting classifications of pathogenicity Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
RS762902907 CLN6 Health Risk Pathogenic/Likely pathogenic Ceroid lipofuscinosis, neuronal
RS762903007 IDUA Health Risk Pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS76290319 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Inborn genetic diseases
RS762903420 TONSL Health Risk Pathogenic Sponastrime dysplasia, Sponastrime dysplasia
RS762904815 BRPF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual developmental disorder with dysmorphic facies and ptosis
RS762905130 FAM20A Health Risk Likely pathogenic Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G
RS762905152 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Myopathy
RS762905211 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2
RS762905862 KIAA0586 Health Risk Likely pathogenic Joubert syndrome 23, Joubert syndrome 23
RS762905941 TRIM32 Health Risk Conflicting classifications of pathogenicity Sarcotubular myopathy, Bardet-Biedl syndrome
RS762908108 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS762908120 SH3PXD2B Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
RS762908677 NGLY1 Health Risk Conflicting classifications of pathogenicity Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS762909195 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS762909359 DOCK2 Health Risk Pathogenic DOCK2 deficiency, DOCK2 deficiency
RS762909447 ABCA4 Health Risk Conflicting classifications of pathogenicity —
RS762910638 KCNQ2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS76291085 NLRP3 Health Risk Conflicting classifications of pathogenicity Cryopyrin associated periodic syndrome, Cryopyrin associated periodic syndrome
RS762910963 OTC Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Inborn genetic diseases
RS762911032 COL2A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762911981 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS762913101 MECR Health Risk Pathogenic/Likely pathogenic Dystonia, childhood-onset
RS762913325 SGMS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762913390 LARS1 Health Risk Conflicting classifications of pathogenicity Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
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