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
RS199521200 ECE1 Health Risk Conflicting classifications of pathogenicity —
RS199521388 SRCAP Health Risk Conflicting classifications of pathogenicity —
RS199521654 SLC5A2 Health Risk Conflicting classifications of pathogenicity Familial renal glucosuria, Inborn genetic diseases
RS199522035 NEK1 Health Risk Conflicting classifications of pathogenicity Motor neuron disease, Short-rib thoracic dysplasia 6 with or without polydactyly
RS199522051 FIG4 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4
RS199522131 F8 Health Risk Conflicting classifications of pathogenicity Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS199522335 ATL3 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS199522402 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS199522406 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS199522616 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS199522781 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Geleophysic dysplasia
RS199522855 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group I
RS199522950 WNT2B Health Risk Conflicting classifications of pathogenicity —
RS199523495 COL18A1 Health Risk Conflicting classifications of pathogenicity Knobloch syndrome, Knobloch syndrome
RS199523510 COL1A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, arthrochalasia type
RS199523516 CLDN14 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 29, Autosomal recessive nonsyndromic hearing loss 29
RS199523612 TNNC1 Health Risk Likely pathogenic Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13
RS199523740 PLXNA1 Health Risk Conflicting classifications of pathogenicity PLXNA1-related disorder, PLXNA1-related disorder
RS199523893 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Holoprosencephaly 7
RS199524299 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Inborn genetic diseases
RS199524784 PIEZO1 Health Risk Conflicting classifications of pathogenicity PIEZO1-related disorder, Malignant tumor of esophagus
RS199524847 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS199524907 ACAT1 Health Risk Pathogenic/Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Inborn genetic diseases
RS199525333 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS199525540 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS199526104 TMEM43 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy
RS199526105 PEX1 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders
RS199526439 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS199526748 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS199526774 TTC12 Health Risk Conflicting classifications of pathogenicity Ciliary dyskinesia, primary
RS199526819 SCNN1A Health Risk Conflicting classifications of pathogenicity Bronchiectasis with or without elevated sweat chloride 2, Pseudohypoaldosteronism
RS199526820 SMAD4 Health Risk Conflicting classifications of pathogenicity Generalized juvenile polyposis/juvenile polyposis coli, Hereditary cancer-predisposing syndrome
RS199526949 DDR2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199527325 COL17A1 Health Risk Likely pathogenic Epidermolysis bullosa, junctional 4
RS199527360 GLIS3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199527708 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiac arrest, Long QT syndrome
RS199527737 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS199527818 SGCA Health Risk Conflicting classifications of pathogenicity Sarcoglycanopathy, Sarcoglycanopathy
RS199528231 MCCC1 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS199528296 MMADHC Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylmalonic aciduria and homocystinuria type cblD
RS199528724 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ZNF469-related disorder
RS199528866 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS199529046 BEST1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive bestrophinopathy, BEST1-related disorder
RS199529657 PODXL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199529768 TCTN1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 13, Meckel-Gruber syndrome
RS199529910 GDAP1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease
RS199530093 CD36 Health Risk Likely pathogenic Platelet-type bleeding disorder 10, Platelet-type bleeding disorder 10
RS199530245 TCF20 Health Risk Conflicting classifications of pathogenicity Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS199530601 FLNA Health Risk Conflicting classifications of pathogenicity Melnick-Needles syndrome, Heterotopia
RS199530726 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS199530759 THRA Health Risk Conflicting classifications of pathogenicity Congenital nongoitrous hypothyroidism 6, THRA-related disorder
RS199530808 ADAMTSL4 Health Risk Pathogenic Ectopia lentis et pupillae, Ectopia lentis 2
RS199530997 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS199531052 DGUOK Health Risk Conflicting classifications of pathogenicity DGUOK-related disorder, DGUOK-related disorder
RS199531140 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS199531653 SMAD6 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 2, Aortic valve disease 2
RS199531701 MYOM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, MYOM1-related disorder
RS199531851 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS199531912 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Epidermolysis bullosa
RS199532353 ELANE Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cyclical neutropenia
RS199532781 TTN Health Risk Conflicting classifications of pathogenicity —
RS199535198 GLE1 Health Risk Pathogenic —
RS199535268 ZFPM2 Health Risk Conflicting classifications of pathogenicity 46, XY sex reversal 9
RS199535472 RINT1 Health Risk Conflicting classifications of pathogenicity —
RS199535573 CHEK1 Health Risk Likely pathogenic Male infertility due to gonadal dysgenesis or sperm disorder, Male infertility due to gonadal dysgenesis or sperm disorder
RS199535840 HADHA Health Risk Conflicting classifications of pathogenicity Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS199535863 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS199535970 TOR1A Health Risk Conflicting classifications of pathogenicity Early-onset generalized limb-onset dystonia, Dystonic disorder
RS199535979 LAMC3 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction, Left ventricular noncompaction
RS199536082 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS199536398 COL4A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Porencephaly 2
RS199536408 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS199536442 SLC34A3 Health Risk Conflicting classifications of pathogenicity —
RS199536615 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fumarase deficiency
RS199536870 KIDINS220 Health Risk Conflicting classifications of pathogenicity KIDINS220-related disorder, Inborn genetic diseases
RS199537186 MYO15A Health Risk Conflicting classifications of pathogenicity Childhood onset hearing loss, Childhood onset hearing loss
RS199537188 CARD14 Health Risk Conflicting classifications of pathogenicity Psoriasis 2, Pityriasis rubra pilaris
RS199537336 RGS9 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS199537542 KIAA0586 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS199537660 DGAT1 Health Risk Conflicting classifications of pathogenicity —
RS199537944 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1F, Usher syndrome type 1F
RS199538058 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS199538100 GLB1 Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-B
RS199538455 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS199538534 SNAP29 Health Risk Conflicting classifications of pathogenicity CEDNIK syndrome, Inborn genetic diseases
RS199538582 GLDN Health Risk Likely pathogenic —
RS199538903 CHRND Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome, Lethal multiple pterygium syndrome
RS199539261 CACNB2 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 4, Hypertrophic cardiomyopathy
RS199539580 COL11A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 2, Fibrochondrogenesis 1
RS199540030 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS199541037 MYOT Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 3, Myofibrillar myopathy 3
RS199541122 DHTKD1 Health Risk Conflicting classifications of pathogenicity 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS199541150 TANC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual developmental disorder with autistic features and language delay
RS199541169 GFER Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
RS199541299 ABRAXAS1 Health Risk Conflicting classifications of pathogenicity —
RS199541595 FSCN2 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS199541716 TRRAP Health Risk Conflicting classifications of pathogenicity TRRAP-related disorder, TRRAP-related disorder
RS199541807 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS199542428 OTUD6B Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with dysmorphic facies, seizures
RS199542988 FOXRED1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 19
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