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
RS563142074 ERCC6 Health Risk Conflicting classifications of pathogenicity Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2
RS563144239 LARGE1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy type B6, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS563145604 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS563149622 ABCA1 Health Risk Conflicting classifications of pathogenicity Tangier disease, Hypoalphalipoproteinemia
RS563151154 LDLRAP1 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS56315337 TEX14 Health Risk Pathogenic Non-obstructive azoospermia, Non-obstructive azoospermia
RS563156233 DOLK Health Risk Conflicting classifications of pathogenicity DK1-congenital disorder of glycosylation, Cardiovascular phenotype
RS563163157 COCH Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 9, Autosomal dominant nonsyndromic hearing loss 9
RS563171274 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS56317927 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BRCA2-related disorder
RS563189672 MRPS34 Health Risk Pathogenic Combined oxidative phosphorylation deficiency 32, Ovarian serous cystadenocarcinoma
RS563194186 HCN4 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 8, Cardiovascular phenotype
RS563202944 ZNF469 Health Risk Conflicting classifications of pathogenicity ZNF469-related disorder, Cardiovascular phenotype
RS563208176 GUCY2D Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Cone-rod dystrophy 6
RS56321129 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS563222200 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Rapadilino syndrome
RS563225941 FLII Health Risk Likely pathogenic Primary dilated cardiomyopathy, Cardiomyopathy
RS563228953 FBN2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Congenital contractural arachnodactyly
RS563231684 RIT1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 8, Noonan syndrome and Noonan-related syndrome
RS563232654 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot
RS563233842 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1G
RS563236303 XPC Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group C
RS563237107 HRG Health Risk Conflicting classifications of pathogenicity —
RS563238934 DYRK1B Health Risk Conflicting classifications of pathogenicity Abdominal obesity-metabolic syndrome 3, DYRK1B-related disorder
RS563239 KMT2A Health Risk Pathogenic —
RS563241317 GBE1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV
RS563241895 CP Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Inborn genetic diseases
RS563243550 PHIP Health Risk Conflicting classifications of pathogenicity PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, Inborn genetic diseases
RS563246146 CYP11B2 Health Risk Conflicting classifications of pathogenicity Corticosterone methyloxidase type 2 deficiency, Glucocorticoid-remediable aldosteronism
RS56324666 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS56325023 MBL2 Health Risk Conflicting classifications of pathogenicity Mannose-binding lectin deficiency, Mannose-binding lectin deficiency
RS563259179 LRSAM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease
RS563259198 ALG12 Health Risk Pathogenic ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
RS563275093 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal recessive form
RS563275223 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS56327920 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, MYH9-related disorder
RS563280837 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, DNAH11-related disorder
RS56328701 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast neoplasm, Hereditary cancer-predisposing syndrome
RS563288128 NBAS Health Risk Pathogenic —
RS56329598 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS563296138 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases
RS56329631 IKBKB Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to IKK2 deficiency, Severe combined immunodeficiency due to IKK2 deficiency
RS56329646 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS563299553 SARS2 Health Risk Conflicting classifications of pathogenicity Hyperuricemia, pulmonary hypertension
RS56330345 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS563304627 HNF1A Health Risk Conflicting classifications of pathogenicity —
RS563304664 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS563305936 TGM1 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS56331088 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS563315271 RUSC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 61
RS563317319 ST3GAL3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS56332208 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Malignant tumor of esophagus
RS563322370 TMC1 Health Risk Pathogenic/Likely pathogenic Autosomal dominant nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 7
RS563324563 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS563328673 RTTN Health Risk Conflicting classifications of pathogenicity —
RS563331592 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS563333401 HCN4 Health Risk Conflicting classifications of pathogenicity Sick sinus syndrome 2, autosomal dominant
RS563333869 ATP6V0A2 Health Risk Conflicting classifications of pathogenicity Cutis laxa with osteodystrophy, ALG9 congenital disorder of glycosylation
RS563335203 CA4 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS563335387 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS56333627 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS563338043 MYOF Health Risk Conflicting classifications of pathogenicity Angioedema, hereditary
RS563342580 CASQ2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 2, Catecholaminergic polymorphic ventricular tachycardia 2
RS563345134 KIF1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS563345694 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS563345848 PHKB Health Risk Pathogenic Glycogen storage disease IXb, Glycogen phosphorylase kinase deficiency
RS563352149 RSPH4A Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 11, Primary ciliary dyskinesia
RS56335342 HNF1A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young
RS56335406 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS563356062 ERCC6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS563358516 SORL1 Health Risk Conflicting classifications of pathogenicity —
RS563360548 CHD7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CHD7-related disorder
RS56336919 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS563376014 ATP5F1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS563376340 SLC2A10 Health Risk Conflicting classifications of pathogenicity Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS563377054 DGAT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS563377499 OBSCN Health Risk Conflicting classifications of pathogenicity —
RS563378859 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS563382903 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
RS56338790 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS563390335 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS56339365 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy 4
RS563393715 ALMS1 Health Risk Pathogenic Alstrom syndrome, Cardiovascular phenotype
RS56339482 CYP1B1 Health Risk Conflicting classifications of pathogenicity Glaucoma 3A, Irido-corneo-trabecular dysgenesis
RS563400584 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS563401372 PRDM5 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Ehlers-Danlos syndrome
RS563403703 NPHP3 Health Risk Conflicting classifications of pathogenicity NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1
RS563410947 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS56341125 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, RECQL4-related disorder
RS563415711 PROM1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 41
RS563417983 PCCA Health Risk Conflicting classifications of pathogenicity Propionic acidemia, PCCA-related disorder
RS56341835 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Early-onset myopathy with fatal cardiomyopathy
RS563421722 SETX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spinocerebellar ataxia
RS56342240 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS563423438 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
RS563430855 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS563433235 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS563440658 LAMA3 Health Risk Conflicting classifications of pathogenicity Laryngo-onycho-cutaneous syndrome, Junctional epidermolysis bullosa gravis of Herlitz
RS563441026 EYS Health Risk Conflicting classifications of pathogenicity Autosomal recessive retinitis pigmentosa, Inborn genetic diseases
RS563444562 LAMC3 Health Risk Conflicting classifications of pathogenicity —
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