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
RS1330554738 CYP21A2 Health Risk Pathogenic Congenital adrenal hyperplasia, Congenital adrenal hyperplasia
RS1330564240 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS1330578621 SLC25A20 Health Risk Pathogenic/Likely pathogenic Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS1330593620 MSH3 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS1330596542 GJC2 Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 2, Spastic paraplegia
RS13306026 PTGIS Health Risk Pathogenic Essential hypertension, Essential hypertension
RS13306068 ABCA1 Health Risk Conflicting classifications of pathogenicity Hypoalphalipoproteinemia, primary
RS13306073 ABCA1 Health Risk Conflicting classifications of pathogenicity Tangier disease, Hypoalphalipoproteinemia
RS13306077 ABCA1 Health Risk Conflicting classifications of pathogenicity Hypoalphalipoproteinemia, primary
RS13306080 ABCA1 Health Risk Conflicting classifications of pathogenicity Hypoalphalipoproteinemia, primary
RS13306091 ACE Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Renal tubular dysgenesis of genetic origin
RS1330612935 ARMC9 Health Risk Pathogenic Joubert syndrome 30, Joubert syndrome 30
RS1330614261 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS13306155 AGT Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Essential hypertension
RS13306187 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS13306188 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS13306191 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS13306193 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS13306194 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS13306196 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS13306206 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1330621664 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1330624821 PEX13 Health Risk Pathogenic Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11A (Zellweger)
RS1330628156 EPHB4 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation 2, EPHB4-related disorder
RS13306300 CYBB Health Risk Conflicting classifications of pathogenicity Granulomatous disease, chronic
RS1330631412 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS13306372 FN1 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type
RS13306415 GYS1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency
RS13306444 INS;INS-IGF2 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 10, Transient Neonatal Diabetes
RS13306449 INSR Health Risk Conflicting classifications of pathogenicity Leprechaunism syndrome, Insulin-resistant diabetes mellitus AND acanthosis nigricans
RS13306476 ITGB3 Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS13306505 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS13306510 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS13306512 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS13306515 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS13306528 LEPR Health Risk Conflicting classifications of pathogenicity Obesity due to leptin receptor gene deficiency, Obesity due to leptin receptor gene deficiency
RS1330659380 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS13306627 SCNN1B Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism, type IB1
RS13306633 SCNN1B Health Risk Conflicting classifications of pathogenicity Liddle syndrome 1, Pseudohypoaldosteronism
RS13306666 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS13306668 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS1330667099 XPC Health Risk Pathogenic Xeroderma pigmentosum, group C
RS1330675110 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS13306758 SLC2A1 Health Risk Pathogenic/Likely pathogenic Epilepsy, idiopathic generalized
RS1330676517 NF2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS13306774 SLC4A1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 4, Hereditary spherocytosis type 4
RS13306776 SLC4A1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 4, Autosomal dominant distal renal tubular acidosis
RS13306787 SLC4A1 Health Risk Pathogenic/Likely pathogenic Autosomal dominant distal renal tubular acidosis, Hereditary spherocytosis type 4
RS1330705989 F9 Health Risk Likely pathogenic F9-related disorder, F9-related disorder
RS1330723939 IL17RA Health Risk Pathogenic Immunodeficiency 51, Immunodeficiency 51
RS1330743871 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS1330745435 CEP290 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Nephronophthisis
RS1330765503 SPAG1 Health Risk Likely pathogenic Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28
RS1330765515 MTPAP Health Risk Likely pathogenic Spastic ataxia, Spastic ataxia
RS1330779100 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta
RS1330779541 F9 Health Risk Pathogenic Hereditary factor IX deficiency disease, Thrombophilia
RS1330791390 MSH3 Health Risk Pathogenic Familial adenomatous polyposis 4, Familial adenomatous polyposis 4
RS1330792627 WT1 Health Risk Conflicting classifications of pathogenicity Drash syndrome, Frasier syndrome
RS1330793674 BCKDHA Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS1330811896 FUCA1 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS1330826129 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS1330827109 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1330853690 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS1330865474 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Lung sarcomatoid carcinoma
RS1330873923 MED12 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, FG syndrome
RS1330875156 TPP1 Health Risk Likely pathogenic Cervical cancer, Neuronal ceroid lipofuscinosis 2
RS1330890210 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1330899688 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1330900330 CHD7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CHARGE syndrome
RS1330915067 LAMB2 Health Risk Likely pathogenic LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome
RS1330915229 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS1330919125 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS1330933906 COL6A1 Health Risk Pathogenic/Likely pathogenic COL6A1-related disorder, Bethlem myopathy 1A
RS1330937621 RAD51C Health Risk Pathogenic Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1330937800 NACC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1330942177 TRPS1 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III
RS1330944743 HFE Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS1330960948 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9
RS1330961789 COL27A1 Health Risk Pathogenic —
RS1330990917 MED12 Health Risk Conflicting classifications of pathogenicity X-linked intellectual disability with marfanoid habitus, FG syndrome
RS1330992740 CWF19L1 Health Risk Likely pathogenic Autosomal recessive spinocerebellar ataxia 17, Autosomal recessive spinocerebellar ataxia 17
RS1330994397 GOSR2 Health Risk Pathogenic Progressive myoclonic epilepsy, Progressive myoclonic epilepsy
RS1331019600 HPS5 Health Risk Pathogenic —
RS1331026006 CHD8 Health Risk Pathogenic Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS1331043174 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1331062755 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS1331064724 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1331075407 NAXD Health Risk Likely pathogenic NAD(P)HX dehydratase deficiency, NAD(P)HX dehydratase deficiency
RS1331100491 ASPA Health Risk Pathogenic/Likely pathogenic Spongy degeneration of central nervous system, Canavan Disease
RS1331106064 GRHPR Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria, type II
RS1331110870 CDK13 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1331111339 FMO3 Health Risk Pathogenic Trimethylaminuria, Trimethylaminuria
RS1331134740 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1331155296 PHGDH Health Risk Pathogenic PHGDH deficiency, Neu-Laxova syndrome 1
RS1331157104 GYS1 Health Risk Pathogenic Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency
RS1331207836 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1331215787 TCTN2 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS1331217337 SETX Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS1331241591 EVC2 Health Risk Conflicting classifications of pathogenicity Curry-Hall syndrome, Ellis-van Creveld syndrome
RS1331260332 COL6A2 Health Risk Pathogenic/Likely pathogenic COL6A2-related disorder, COL6A2-related disorder
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