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
RS372193033 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS372195202 MMAB Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria, cblB type
RS372195299 UNC80 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372195490 SLC17A5 Health Risk Conflicting classifications of pathogenicity Sialic acid storage disease, severe infantile type
RS372195997 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS372197313 EFTUD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372198547 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS372199572 MORC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2Z, Charcot-Marie-Tooth disease axonal type 2Z
RS372199631 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS372199887 DMXL2 Health Risk Conflicting classifications of pathogenicity —
RS372200406 FBN3 Health Risk Conflicting classifications of pathogenicity —
RS372201423 SLC2A9 Health Risk Likely pathogenic Hypouricemia, renal
RS372203483 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS372205468 IDS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
RS372205719 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS372205884 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372206114 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS372206279 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS372206751 GLI2 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
RS372207262 FLCN Health Risk Conflicting classifications of pathogenicity Familial spontaneous pneumothorax, Birt-Hogg-Dube syndrome
RS372207376 ABCA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS372207653 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS372208970 PLEKHG2 Health Risk Conflicting classifications of pathogenicity Leukodystrophy and acquired microcephaly with or without dystonia, Leukodystrophy and acquired microcephaly with or without dystonia
RS372209109 LTBP2 Health Risk Conflicting classifications of pathogenicity Glaucoma 3, primary congenital
RS372209368 DIS3L2 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Perlman syndrome
RS372209528 ALG13 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 36
RS372210292 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS372210358 SCN9A Health Risk Conflicting classifications of pathogenicity Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain
RS372210450 CSF1R Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372210790 LRP4 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 17, Sclerosteosis 2
RS372210965 GRHL2 Health Risk Pathogenic —
RS372212045 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS372213315 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS372214186 FKBP10 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 11, Osteogenesis imperfecta
RS372214593 TPM1 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3
RS372214909 CR2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS372215069 LDLRAP1 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS372215131 MYOZ2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS372215423 CNGA3 Health Risk Likely pathogenic —
RS372215435 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS372215987 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS372217127 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS372217508 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS372218880 GSN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372219420 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS372221192 CDH3 Health Risk Conflicting classifications of pathogenicity EEM syndrome, EEM syndrome
RS372221490 ANO5 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS372222044 ANGPTL3 Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 2, Inborn genetic diseases
RS372222227 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS372222796 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS372223196 ATP6V1B1 Health Risk Conflicting classifications of pathogenicity Renal tubular acidosis with progressive nerve deafness, ATP6V1B1-related disorder
RS372223335 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS372225161 TPO Health Risk Likely pathogenic —
RS372225464 ELP1 Health Risk Pathogenic/Likely pathogenic Familial dysautonomia, Medulloblastoma
RS372225738 WT1 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, 11p partial monosomy syndrome
RS372226278 COG5 Health Risk Conflicting classifications of pathogenicity COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS372226487 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS372226807 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS372227120 CFTR Health Risk Pathogenic Cystic fibrosis, CFTR-related disorder
RS372227642 COL5A2 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Ehlers-Danlos syndrome
RS372227864 CAPN5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CAPN5-related disorder
RS372228558 TNRC6A Health Risk Conflicting classifications of pathogenicity —
RS372228887 IQSEC1 Health Risk Conflicting classifications of pathogenicity —
RS372229032 STRADA Health Risk Conflicting classifications of pathogenicity Polyhydramnios, megalencephaly
RS372229450 TTN Health Risk Conflicting classifications of pathogenicity —
RS372230422 ATP6V0A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal renal tubular acidosis, Autosomal recessive distal renal tubular acidosis
RS372230498 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS372230504 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease
RS372230531 SP110 Health Risk Conflicting classifications of pathogenicity Hepatic veno-occlusive disease-immunodeficiency syndrome, Hepatic veno-occlusive disease-immunodeficiency syndrome
RS372230994 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS372232840 PSAT1 Health Risk Conflicting classifications of pathogenicity PSAT deficiency, Neu-Laxova syndrome 2
RS372233286 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, IFT140-related disorder
RS372233648 ATP6V1B1 Health Risk Conflicting classifications of pathogenicity —
RS372233686 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS372235872 TCTN2 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 24, Meckel syndrome
RS372236046 TBCE Health Risk Conflicting classifications of pathogenicity —
RS372237012 COCH Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 9, Autosomal dominant nonsyndromic hearing loss 9
RS372237082 PRPF6 Health Risk Conflicting classifications of pathogenicity —
RS372237191 EXT2 Health Risk Conflicting classifications of pathogenicity Exostoses, multiple
RS372237310 ERCC8 Health Risk Pathogenic/Likely pathogenic Cockayne syndrome type 1, UV-sensitive syndrome 2
RS372237449 FN1 Health Risk Conflicting classifications of pathogenicity Spondylometaphyseal dysplasia - Sutcliffe type, Glomerulopathy with fibronectin deposits 2
RS372237745 SEPTIN9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372239517 SIX5 Health Risk Conflicting classifications of pathogenicity SIX5-related disorder, Branchiootorenal syndrome 2
RS372240734 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial colorectal cancer type X
RS372240993 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases
RS372241056 LOXHD1 Health Risk Conflicting classifications of pathogenicity LOXHD1-related disorder, LOXHD1-related disorder
RS372241697 NOTCH3 Health Risk Conflicting classifications of pathogenicity NOTCH3-related disorder, NOTCH3-related disorder
RS372242085 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS372244975 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS372245035 LRRK2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Parkinson disease 8, Inborn genetic diseases
RS372245645 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS372245668 TDP2 Health Risk Pathogenic Spinocerebellar ataxia, autosomal recessive 23
RS372246096 KLHL40 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 8, Nemaline myopathy 8
RS372246702 MOCS1 Health Risk Pathogenic/Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS372247136 POC1A Health Risk Pathogenic/Likely pathogenic Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
RS372247345 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS372247515 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS372247606 CCNO Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Inborn genetic diseases
RS372247799 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Hypophosphatasia
RS372249044 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Wolfram-like syndrome
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