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
RS747447584 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS747447840 ADAMTS2 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS747448946 DSP Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8
RS747449574 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS747449879 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS747449936 DHX37 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747450377 TMEM165 Health Risk Conflicting classifications of pathogenicity TMEM165-congenital disorder of glycosylation, TMEM165-congenital disorder of glycosylation
RS747450518 FANCD2 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS747453069 OXCT1 Health Risk Conflicting classifications of pathogenicity Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency
RS747453876 PAX2 Health Risk Pathogenic/Likely pathogenic Renal coloboma syndrome, Focal segmental glomerulosclerosis 7
RS747454154 UPB1 Health Risk Likely pathogenic —
RS747454971 OPA1 Health Risk Pathogenic/Likely pathogenic Uterine corpus endometrial carcinoma, Uterine corpus endometrial carcinoma
RS747456938 F5 Health Risk Conflicting classifications of pathogenicity Budd-Chiari syndrome, Factor V deficiency
RS747457022 GDAP2 Health Risk Likely pathogenic GDAP2-related disorder, GDAP2-related disorder
RS747457090 ASAH1 Health Risk Pathogenic Ovarian serous cystadenocarcinoma, Ovarian serous cystadenocarcinoma
RS747457929 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS747458532 MYO3A Health Risk Likely pathogenic —
RS747458590 HPGD Health Risk Pathogenic —
RS747458739 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS747459337 AP3B1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS747459594 ADGRE2 Health Risk Conflicting classifications of pathogenicity —
RS747461754 SUOX Health Risk Pathogenic Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS747462107 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS747463080 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS747463968 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS747464117 LRBA Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to LRBA deficiency, Inborn genetic diseases
RS747464195 IL36RN Health Risk Pathogenic Generalized pustular psoriasis, Generalized pustular psoriasis
RS747464249 SPEG Health Risk Conflicting classifications of pathogenicity —
RS747466300 KMT2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Kabuki syndrome
RS747467294 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS747467877 HCN4 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 8, Cardiovascular phenotype
RS747468547 PPP1CB Health Risk Conflicting classifications of pathogenicity PPP1CB-related disorder, PPP1CB-related disorder
RS747469176 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS747469275 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS747469438 FANCD2 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS747469885 TRNT1 Health Risk Conflicting classifications of pathogenicity Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Inborn genetic diseases
RS747470305 DHX37 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747470831 SMARCE1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial meningioma
RS747471303 OTOF Health Risk Pathogenic/Likely pathogenic Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss
RS747472065 CAMK2B Health Risk Conflicting classifications of pathogenicity —
RS747473434 TSEN54 Health Risk Conflicting classifications of pathogenicity —
RS747475323 EIF2B5 Health Risk Conflicting classifications of pathogenicity Vanishing white matter disease, Vanishing white matter disease
RS747475412 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747475542 ANK3 Health Risk Conflicting classifications of pathogenicity —
RS747475869 CYFIP2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 65
RS747476158 GMPPA Health Risk Likely pathogenic GMPPA-related disorder, GMPPA-related disorder
RS747476251 HADH Health Risk Conflicting classifications of pathogenicity Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia
RS747476629 EYA1 Health Risk Conflicting classifications of pathogenicity Branchiootorenal syndrome 1, Otofaciocervical syndrome 1
RS747476726 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS747476940 SNRNP200 Health Risk Conflicting classifications of pathogenicity —
RS747477628 WFS1 Health Risk Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders, Autosomal dominant nonsyndromic hearing loss 6
RS747478031 ALG13 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 36
RS747479318 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS747479565 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Potassium-aggravated myotonia
RS747479664 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS747480084 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS747480526 TUBB3 Health Risk Pathogenic/Likely pathogenic Complex cortical dysplasia with other brain malformations 1, Inborn genetic diseases
RS747481280 OPTN Health Risk Conflicting classifications of pathogenicity Motor neuron disease, Primary open angle glaucoma
RS747481987 SLC34A3 Health Risk Pathogenic —
RS747483177 SPAG1 Health Risk Pathogenic Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28
RS747483368 PKD1 Health Risk Pathogenic Polycystic liver disease 1, Polycystic kidney disease
RS747483450 PIK3CD Health Risk Pathogenic Immunodeficiency 14, Immunodeficiency 14
RS747483671 PCNT Health Risk Likely pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS747485058 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS747485179 SEMA3A Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS747486328 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS747486855 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS747488464 CTNS Health Risk Conflicting classifications of pathogenicity Ocular cystinosis, Juvenile nephropathic cystinosis
RS747488546 ALPL Health Risk Pathogenic/Likely pathogenic Infantile hypophosphatasia, Adult hypophosphatasia
RS747489126 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS747489303 CACNA2D4 Health Risk Conflicting classifications of pathogenicity —
RS747489687 MCPH1 Health Risk Pathogenic —
RS747490039 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Cardiomyopathy
RS747490958 DCTN1 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 1, Perry syndrome
RS747493127 HSPG2 Health Risk Pathogenic HSPG2-related disorder, HSPG2-related disorder
RS747493997 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS747495987 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS747496165 GNE Health Risk Likely pathogenic GNE myopathy, Sialuria
RS747496610 CRTAP Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS747496798 NEXMIF Health Risk Conflicting classifications of pathogenicity X-linked intellectual disability, Cantagrel type
RS747497458 DIS3L2 Health Risk Likely pathogenic Perlman syndrome, Familial cancer of breast
RS747498968 BLM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Bloom syndrome
RS747499304 MMAB Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria, cblB type
RS747499674 COL9A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747500641 CACNA2D1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome
RS747501109 TRIP12 Health Risk Conflicting classifications of pathogenicity Clark-Baraitser syndrome, Clark-Baraitser syndrome
RS747501465 SETX Health Risk Pathogenic/Likely pathogenic Spinocerebellar ataxia, autosomal recessive
RS747502205 PAX3 Health Risk Conflicting classifications of pathogenicity Waardenburg syndrome, Craniofacial-deafness-hand syndrome
RS747502487 NOS3 Health Risk Conflicting classifications of pathogenicity —
RS747502723 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, NOTCH1-related disorder
RS747503698 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia 7, SPG7-related disorder
RS747504060 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS747504082 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS747504380 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS747504492 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS747504576 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS747504631 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS747505929 KDM6A Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 2, KDM6A-related disorder
RS747505958 IL11RA Health Risk Pathogenic/Likely pathogenic —
RS747505977 COL11A1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Connective tissue disorder
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