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
RS763523373 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS763523997 ABCA12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763524933 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS763525338 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS763525759 NTHL1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS763526083 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS763526610 ABCB11 Health Risk Conflicting classifications of pathogenicity Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS763527391 BRAT1 Health Risk Pathogenic/Likely pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Inborn genetic diseases
RS763527398 ABCC2 Health Risk Likely pathogenic —
RS763529905 HNF4A Health Risk Conflicting classifications of pathogenicity —
RS763530690 NDUFV1 Health Risk Likely pathogenic —
RS763531478 HMGCS2 Health Risk Pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
RS76353203 APOC3 Health Risk Conflicting classifications of pathogenicity Apolipoprotein c-III deficiency, Coronary heart disease
RS763534423 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS763534805 ZIC3 Health Risk Conflicting classifications of pathogenicity Heterotaxy, visceral
RS763535523 NDUFS6 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 9
RS763535661 ADAMTSL4 Health Risk Pathogenic Ectopia lentis 2, isolated
RS763536557 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763537103 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy
RS763537210 CEP152 Health Risk Pathogenic/Likely pathogenic Seckel syndrome 5, Microcephaly 9
RS763538103 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy
RS763538104 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS763538221 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Tuberous sclerosis syndrome
RS763538232 COL2A1 Health Risk Conflicting classifications of pathogenicity Spondyloperipheral dysplasia, Inborn genetic diseases
RS763538373 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, FRAS1-related disorder
RS763538451 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, Thyroid cancer
RS763539113 ARMC9 Health Risk Pathogenic —
RS763539350 MTHFR Health Risk Pathogenic/Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects
RS763541067 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS763541152 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS763541530 ETFDH Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS763542069 ADSL Health Risk Pathogenic/Likely pathogenic Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS763543607 G6PC1 Health Risk Likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS763545230 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS763545409 ABCA4 Health Risk Pathogenic —
RS763546447 GFM1 Health Risk Conflicting classifications of pathogenicity Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS763546583 TRPM1 Health Risk Pathogenic/Likely pathogenic Congenital stationary night blindness 1C, Congenital stationary night blindness 1C
RS763548540 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiomyopathy
RS763548858 WNT10B Health Risk Pathogenic Split hand-foot malformation 6, Split hand-foot malformation 6
RS763548893 GNAS Health Risk Conflicting classifications of pathogenicity —
RS763549452 SPP2 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS763550734 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS763550824 LPIN2 Health Risk Conflicting classifications of pathogenicity Majeed syndrome, Autoinflammatory syndrome
RS763551371 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS763551837 WT1 Health Risk Conflicting classifications of pathogenicity Drash syndrome, Frasier syndrome
RS763552267 SOS2 Health Risk Conflicting classifications of pathogenicity SOS2-related disorder, Noonan syndrome 9
RS763554006 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS763554121 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS763555032 WDR19 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS763555514 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS763556416 PTS Health Risk Conflicting classifications of pathogenicity 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS763557318 TCTN3 Health Risk Pathogenic Orofacial-digital syndrome IV, Joubert syndrome 18
RS763557773 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS763557914 ATR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763559077 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS763559442 WFS1 Health Risk Conflicting classifications of pathogenicity —
RS763559509 LAMB3 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS763559949 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS763560097 KCNJ1 Health Risk Pathogenic —
RS763560697 DSP Health Risk Pathogenic/Likely pathogenic Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS763560797 CEP83 Health Risk Pathogenic Nephronophthisis 18, Nephronophthisis 18
RS763561068 WFS1 Health Risk Pathogenic —
RS763561337 IRF2BP2 Health Risk Conflicting classifications of pathogenicity —
RS763562241 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS763562701 IFT122 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS763562818 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS763565243 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS763565647 INVS Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS763566905 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A
RS763566932 NR2F1 Health Risk Conflicting classifications of pathogenicity Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome
RS763567031 ABRAXAS1 Health Risk Conflicting classifications of pathogenicity —
RS763567400 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS763567590 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS763568293 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS763568449 ABCG8 Health Risk Likely pathogenic —
RS763569711 SPAG1 Health Risk Pathogenic Primary ciliary dyskinesia 28, SPAG1-related disorder
RS763570668 CPT1A Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS763570868 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group I, Fanconi anemia
RS763570958 SOX6 Health Risk Likely pathogenic —
RS763571038 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS763571646 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS763571787 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS763572195 GJB2 Health Risk Pathogenic GJB2-related disorder, Autosomal recessive nonsyndromic hearing loss 1A
RS763573151 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS763573703 AGRN Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8
RS763573768 NBAS Health Risk Likely pathogenic Infantile liver failure syndrome 2, Infantile liver failure syndrome 2
RS763574306 PIK3R1 Health Risk Conflicting classifications of pathogenicity SHORT syndrome, Agammaglobulinemia 7
RS763574680 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS763575313 COL11A2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 53, Fibrochondrogenesis 2
RS763575837 GATA3 Health Risk Pathogenic Hypoparathyroidism, deafness
RS763576540 USH2A Health Risk Likely pathogenic —
RS763578030 COL17A1 Health Risk Likely pathogenic Junctional epidermolysis bullosa, non-Herlitz type
RS763578669 MAGEL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MAGEL2-related disorder
RS763580010 ANG Health Risk Conflicting classifications of pathogenicity —
RS763583384 ALG8 Health Risk Conflicting classifications of pathogenicity ALG8 congenital disorder of glycosylation, ALG8 congenital disorder of glycosylation
RS763583825 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS763584429 NEK2 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS763584486 DSE Health Risk Conflicting classifications of pathogenicity —
RS763586263 POMT1 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
RS763586612 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
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