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
RS61734354 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS61734356 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS61734479 FBLN5 Health Risk Conflicting classifications of pathogenicity Macular degeneration, age-related
RS61734561 ADCY5 Health Risk Conflicting classifications of pathogenicity Dyskinesia with orofacial involvement, autosomal dominant
RS61734629 DNAH1 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 18, Ciliary dyskinesia
RS61734891 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22
RS61735002 PRSS1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS61735035 COL18A1 Health Risk Conflicting classifications of pathogenicity —
RS61735272 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS61735299 ITGB4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Junctional epidermolysis bullosa with pyloric atresia
RS61735331 DCHS1 Health Risk Conflicting classifications of pathogenicity —
RS61735359 GH1 Health Risk Conflicting classifications of pathogenicity Decreased response to growth hormone stimulation test, GH1-related disorder
RS61735388 SPDL1 Health Risk Conflicting classifications of pathogenicity —
RS61735479 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1F
RS61735488 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS61735510 NUP214 Health Risk Conflicting classifications of pathogenicity —
RS61735580 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS61735596 MASP2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency due to MASP-2 deficiency, Immunodeficiency due to MASP-2 deficiency
RS61735621 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS61735622 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS61735631 JAK1 Health Risk Conflicting classifications of pathogenicity Autoinflammation, immune dysregulation
RS61735712 KCNC2 Health Risk Pathogenic Developmental and epileptic encephalopathy 103, Developmental and epileptic encephalopathy 103
RS61735719 GPR39 Health Risk Conflicting classifications of pathogenicity —
RS61735731 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Vesicoureteral reflux 8
RS61735772 TMPRSS15 Health Risk Conflicting classifications of pathogenicity Enterokinase deficiency, Enterokinase deficiency
RS61735807 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS61735808 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS61735813 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS61735823 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS61735825 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS61735832 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS61735833 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS61735859 CBS Health Risk Conflicting classifications of pathogenicity Classic homocystinuria, Familial thoracic aortic aneurysm and aortic dissection
RS61735983 GALT Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia
RS61735984 GALT Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia
RS61736002 OTOG Health Risk Conflicting classifications of pathogenicity Meniere disease, Autosomal recessive nonsyndromic hearing loss 18B
RS61736057 SARS2 Health Risk Conflicting classifications of pathogenicity Hyperuricemia, pulmonary hypertension
RS61736168 MARVELD2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 49, Autosomal recessive nonsyndromic hearing loss 49
RS61736269 ARID1B Health Risk Pathogenic —
RS61736350 TRAPPC9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS61736380 PEX10 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder 6B
RS61736440 MTR Health Risk Conflicting classifications of pathogenicity Methylcobalamin deficiency type cblG, Neural tube defects
RS61736558 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS61736559 DDX41 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases
RS61736585 PACS1 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Inborn genetic diseases
RS61736587 STXBP2 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 5, Autoinflammatory syndrome
RS61736595 MCOLN1 Health Risk Conflicting classifications of pathogenicity Mucolipidosis type IV, Mucolipidosis type IV
RS61736656 BCKDHA Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease
RS61736659 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS61736710 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS61736727 VRK1 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 1A, Inborn genetic diseases
RS61736761 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS61736773 DNAH9 Health Risk Pathogenic —
RS617368 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS61736827 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS61736886 EGFL7 Health Risk Conflicting classifications of pathogenicity —
RS61736892 IDS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
RS61736895 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS61736923 TAP2 Health Risk Pathogenic MHC class I deficiency 2, MHC class I deficiency 2
RS61736941 TXNRD2 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Glucocorticoid deficiency 5
RS61736948 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS61736969 TBC1D4 Health Risk risk factor TYPE 2 DIABETES MELLITUS 5, SUSCEPTIBILITY TO
RS61737008 MMP13 Health Risk Pathogenic —
RS61737058 SVIL Health Risk Conflicting classifications of pathogenicity SVIL-related disorder, SVIL-related disorder
RS61737080 ITGB2 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS61737098 PCK2 Health Risk Conflicting classifications of pathogenicity Phosphoenolpyruvate carboxykinase deficiency, mitochondrial
RS61737172 RAD21 Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4
RS61737194 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHD7-related disorder
RS61737447 MYO5B Health Risk Conflicting classifications of pathogenicity Congenital microvillous atrophy, MYO5B-related disorder
RS61737507 FARSA Health Risk Conflicting classifications of pathogenicity FARSA-related disorder, Melanoma
RS61737684 CEP152 Health Risk Conflicting classifications of pathogenicity Microcephaly 9, primary
RS61737688 MLPH Health Risk Conflicting classifications of pathogenicity —
RS61737739 TNC Health Risk Conflicting classifications of pathogenicity TNC-related disorder, TNC-related disorder
RS61737748 NEK1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 6 with or without polydactyly, NEK1-related disorder
RS61737825 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Long QT syndrome 3
RS61737942 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS61737991 ALDH3A2 Health Risk Pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS61738009 CPA6 Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 5, Global developmental delay
RS61738013 LTBP2 Health Risk Conflicting classifications of pathogenicity Glaucoma 3, primary congenital
RS61738022 LTBP2 Health Risk Conflicting classifications of pathogenicity Glaucoma 3, primary congenital
RS61738024 LTBP2 Health Risk Conflicting classifications of pathogenicity Glaucoma 3, primary congenital
RS61738394 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, OCA2-related disorder
RS61738519 DSPP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS61738521 TBX6 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS61738625 ADA2 Health Risk Conflicting classifications of pathogenicity Deficiency of adenosine deaminase 2, Autoinflammatory syndrome
RS61738782 UTRN Health Risk Conflicting classifications of pathogenicity —
RS61739302 SSH1 Health Risk Conflicting classifications of pathogenicity —
RS61739388 MMAB Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria, cblB type
RS61739399 KNSTRN Health Risk Conflicting classifications of pathogenicity —
RS61739427 GNPTG Health Risk Conflicting classifications of pathogenicity GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS61739459 MYO16 Health Risk Conflicting classifications of pathogenicity —
RS61739618 ZNF687 Health Risk Conflicting classifications of pathogenicity ZNF687-related disorder, ZNF687-related disorder
RS61739637 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP4-related disorder
RS61739694 RIPK4 Health Risk Conflicting classifications of pathogenicity Bartsocas-Papas syndrome 1, RIPK4-related disorder
RS61739705 GABRR2 Health Risk Conflicting classifications of pathogenicity —
RS61739720 SLC6A11 Health Risk Conflicting classifications of pathogenicity —
RS61739895 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS61739911 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS61739928 ARHGEF28 Health Risk Conflicting classifications of pathogenicity ARHGEF28-related disorder, Meniere disease
RS61739965 COX6A1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease recessive intermediate D, Charcot-Marie-Tooth disease recessive intermediate D
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