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
RS574939589 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS574941431 PSEN1 Health Risk Conflicting classifications of pathogenicity Alzheimer disease 3, Dilated cardiomyopathy 1U
RS574944914 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS574948701 VPS35L Health Risk Pathogenic Ritscher-Schinzel syndrome 3, Ritscher-Schinzel syndrome 3
RS574952387 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS574957190 MESP1 Health Risk Conflicting classifications of pathogenicity MESP1-related disorder, MESP1-related disorder
RS574962577 CCDC88C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spinocerebellar ataxia type 40
RS57496341 DES Health Risk Likely pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS574978570 UBR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS574981584 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Inborn genetic diseases
RS574982768 CARD14 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2
RS574983400 MMACHC Health Risk Pathogenic/Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS57499817 KRT5 Health Risk Pathogenic Epidermolysis bullosa simplex with mottled pigmentation, Epidermolysis bullosa simplex
RS575001023 ASS1 Health Risk Pathogenic/Likely pathogenic Citrullinemia type I, Citrullinemia
RS575008764 ANO5 Health Risk Conflicting classifications of pathogenicity Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS575017579 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, DNAH5-related disorder
RS575020601 CETP Health Risk Likely pathogenic Hyperalphalipoproteinemia 1, Hyperalphalipoproteinemia 1
RS575022840 SPECC1L Health Risk Conflicting classifications of pathogenicity SPECC1L-related disorder, Inborn genetic diseases
RS575024313 LDLRAP1 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS575025641 AKR1D1 Health Risk Likely pathogenic —
RS575026013 LOX Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS575028555 SLC25A12 Health Risk Pathogenic —
RS575031539 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS575035810 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS575037500 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS575064188 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, CYP27A1-related disorder
RS575068215 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS575068534 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS575070622 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS575072418 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS575077063 GALK1 Health Risk Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS575078578 DNAAF19 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 17
RS57508089 LMNA Health Risk Likely pathogenic Primary dilated cardiomyopathy, Neuromuscular disease
RS57509953 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS57510142 KRT2 Health Risk Likely pathogenic Ichthyosis bullosa of Siemens, Ichthyosis bullosa of Siemens
RS575109631 CFH Health Risk Likely pathogenic/Likely pathogenic, low penetrance Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome
RS575112817 HESX1 Health Risk Pathogenic PITUITARY HORMONE DEFICIENCY, COMBINED
RS575121167 HEXA Health Risk Conflicting classifications of pathogenicity Tay-Sachs disease, Tay-Sachs disease
RS575123401 TRIOBP Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 28, Autosomal recessive nonsyndromic hearing loss 28
RS575126048 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS575126803 HSPG2 Health Risk Conflicting classifications of pathogenicity —
RS575140567 AP1G1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS575152865 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS575162600 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS575168674 LHCGR Health Risk Conflicting classifications of pathogenicity Gonadotropin-independent familial sexual precocity, Leydig cell agenesis
RS575168916 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS575170766 RNF168 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS575173753 TBC1D24 Health Risk Conflicting classifications of pathogenicity Familial infantile myoclonic epilepsy, Autosomal dominant nonsyndromic hearing loss 65
RS575176246 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS575187651 RHBDF2 Health Risk Conflicting classifications of pathogenicity Palmoplantar keratoderma-esophageal carcinoma syndrome, Palmoplantar keratoderma-esophageal carcinoma syndrome
RS575190694 LOX Health Risk Conflicting classifications of pathogenicity Abnormal facial shape, Increased number of skin folds
RS575193991 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS575196272 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS575200084 PANK4 Health Risk Pathogenic Cataract 49, Cataract 49
RS57520892 LMNA Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 2, autosomal dominant
RS575217517 PRDM13 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS575221219 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS575221770 ZFHX2 Health Risk Conflicting classifications of pathogenicity ZFHX2-related disorder, ZFHX2-related disorder
RS575222284 HMBS Health Risk Pathogenic/Likely pathogenic Acute intermittent porphyria, HMBS-related disorder
RS57522245 KRT14 Health Risk Pathogenic —
RS575223790 KIF5A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 10, Spastic paraplegia
RS575229932 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS575240073 NBAS Health Risk Conflicting classifications of pathogenicity —
RS575246362 SUFU Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Medulloblastoma
RS575246582 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS575248505 KMT5B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS575256657 MYLK3 Health Risk Conflicting classifications of pathogenicity —
RS575260016 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS575262156 SDHD Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Pheochromocytoma
RS575266356 ABCG5 Health Risk Pathogenic Sitosterolemia, Cardiovascular phenotype
RS575268622 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS575275088 BICD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases
RS575285203 COL1A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, arthrochalasia type
RS575299887 ATP1A2 Health Risk Conflicting classifications of pathogenicity Familial hemiplegic migraine, Inborn genetic diseases
RS575305602 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS575323437 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS575326068 CNGA3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 2, Achromatopsia 2
RS575326605 TH Health Risk Conflicting classifications of pathogenicity Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS575328953 CARD14 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2
RS575336882 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS575339393 ABHD12 Health Risk Conflicting classifications of pathogenicity PHARC syndrome, PHARC syndrome
RS575347930 AIP Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS575354684 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS57536312 KRT9 Health Risk Likely pathogenic Palmoplantar keratoderma, epidermolytic
RS575365107 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A2-related disorder
RS575368335 CRYBB1 Health Risk Likely pathogenic Cataract 17 multiple types, Cataract 17 multiple types
RS575368466 SCN1A Health Risk Conflicting classifications of pathogenicity Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS575371774 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
RS575372278 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS575376153 PRDM16 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 8, Left ventricular noncompaction 8
RS575378007 HADH Health Risk Conflicting classifications of pathogenicity Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia
RS575379595 CAD Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 50
RS575383136 KCNJ2 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS575386215 ABCG8 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 1, Cardiovascular phenotype
RS575388598 KMT2E Health Risk Conflicting classifications of pathogenicity —
RS575390201 CCDC88C Health Risk Conflicting classifications of pathogenicity —
RS575394639 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS575406600 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS575412271 DNA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS575412915 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
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