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
RS1178247951 BRF1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1178253962 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1178264170 COL2A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1178267975 TNNI3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS1178273736 ATP6V0A1 Health Risk Likely pathogenic —
RS1178297854 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cardiovascular phenotype
RS1178297876 SLC4A11 Health Risk Pathogenic —
RS117830543 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS1178306013 SLC25A13 Health Risk Pathogenic Citrin deficiency, Citrin deficiency
RS1178331074 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS1178343929 H4C3 Health Risk Likely pathogenic —
RS1178344132 SCARB2 Health Risk Pathogenic Action myoclonus-renal failure syndrome, Action myoclonus-renal failure syndrome
RS1178354607 KCNQ2 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS117836686 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Regional enteritis
RS1178367942 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1178371226 ITGB4 Health Risk Pathogenic/Likely pathogenic Epidermolysis bullosa, junctional 5A
RS1178371530 ZSWIM6 Health Risk Conflicting classifications of pathogenicity —
RS1178384498 NBN Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Microcephaly
RS117838818 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Microcephaly
RS1178393503 CYP27A1 Health Risk Pathogenic/Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS1178414622 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1178421128 ADGRG1 Health Risk Pathogenic —
RS1178421926 TYMP Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS1178427226 IGHMBP2 Health Risk Pathogenic/Likely pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS117843717 SHANK2 Health Risk Conflicting classifications of pathogenicity Autism, Autism
RS1178438128 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Timothy syndrome
RS117843968 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, MAN2B1-related disorder
RS1178467103 LAMA1 Health Risk Likely pathogenic —
RS117846737 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Charcot-Marie-Tooth disease axonal type 2O
RS1178479782 AHI1 Health Risk Likely pathogenic Joubert syndrome, Joubert syndrome
RS1178486820 LAMA3 Health Risk Pathogenic —
RS1178487029 DHH Health Risk Likely pathogenic DHH-related disorder, DHH-related disorder
RS1178491246 FOXP2 Health Risk Pathogenic/Likely pathogenic Childhood apraxia of speech, Childhood apraxia of speech
RS1178515683 CFAP53 Health Risk Pathogenic Heterotaxy, visceral
RS117852025 CEP290 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS1178528306 CNGB3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 3, Achromatopsia 3
RS1178535907 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS117856165 TOP3A Health Risk Conflicting classifications of pathogenicity TOP3A-related disorder, TOP3A-related disorder
RS117857033 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS1178573189 RAD50 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1178577372 LOXHD1 Health Risk Pathogenic —
RS1178584184 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS1178588746 PEX13 Health Risk Pathogenic Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11A (Zellweger)
RS1178600682 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS117861109 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS117861188 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS1178612038 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS1178623529 C8A Health Risk Likely pathogenic —
RS1178623915 DNMT3A Health Risk Pathogenic Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS117862461 BSCL2 Health Risk Conflicting classifications of pathogenicity Congenital generalized lipodystrophy type 2, Neuronopathy
RS1178627457 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS1178628764 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS1178631956 TMC1 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 7, Autosomal recessive nonsyndromic hearing loss 7
RS1178632580 RAX Health Risk Pathogenic —
RS1178634147 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS1178682633 RNF213 Health Risk Likely pathogenic Stroke disorder, Seizure
RS1178683426 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS1178684770 CYP17A1 Health Risk Pathogenic Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
RS1178687976 CBS Health Risk Pathogenic Classic homocystinuria, Classic homocystinuria
RS1178688498 NEDD4L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1178702025 SETBP1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Intellectual disability
RS1178713176 POLE Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1178717934 TBK1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS117872197 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis 3
RS1178732315 GBA1 Health Risk Likely pathogenic Gaucher disease, Gaucher disease
RS1178734829 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome 3b, autosomal recessive
RS1178742053 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS117874766 ABCC8 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, transient neonatal
RS1178751431 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS117876038 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS1178766548 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1178785582 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS1178789950 MYH9 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS117880912 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, Thyroid cancer
RS1178811105 F9 Health Risk Pathogenic Hemophilia B leyden, Hemophilia B leyden
RS1178833797 TJP2 Health Risk Likely pathogenic TJP2-related disorder, TJP2-related disorder
RS1178838681 POMT1 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS117884199 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS117886618 RYR1 Health Risk Likely pathogenic Malignant hyperthermia, susceptibility to
RS117887683 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS1178886103 PTS Health Risk Likely pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS1178912631 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS1178912922 ARSL Health Risk Conflicting classifications of pathogenicity Chondrodysplasia punctata, brachytelephalangic
RS1178918865 CAD Health Risk Conflicting classifications of pathogenicity —
RS11789221 ALAD Health Risk Conflicting classifications of pathogenicity Porphobilinogen synthase deficiency, Porphobilinogen synthase deficiency
RS1178922366 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS1178925696 ABCC9 Health Risk Likely pathogenic Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O
RS117897081 STING1 Health Risk Conflicting classifications of pathogenicity STING-associated vasculopathy with onset in infancy, Autoinflammatory syndrome
RS117897485 FKBP10 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 11, Osteogenesis imperfecta type 11
RS117897604 FSHR Health Risk Conflicting classifications of pathogenicity Ovarian hyperstimulation syndrome, Ovarian dysgenesis 1
RS117897872 ZNF610 Health Risk Conflicting classifications of pathogenicity —
RS1178979608 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS1178984269 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS117898549 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 4, Senior-Loken syndrome 4
RS1178996479 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1179007410 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1179034156 TRPM6 Health Risk Pathogenic Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
RS117903753 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2
RS1179041639 CC2D2A Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS117904191 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
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