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
RS761487760 SZT2 Health Risk Pathogenic —
RS761488596 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS761489014 ADSS1 Health Risk Likely pathogenic Colon adenocarcinoma, Colon adenocarcinoma
RS761489812 HARS2 Health Risk Pathogenic/Likely pathogenic —
RS761490126 SPINK5 Health Risk Likely pathogenic Netherton syndrome, Netherton syndrome
RS761490797 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1
RS761491293 CACNA1C Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, language delay
RS761491320 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS761491947 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS761492600 FANCB Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group B, VACTERL association
RS761493072 ELP1 Health Risk Pathogenic —
RS761493155 ADSL Health Risk Pathogenic Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS761494200 ACSF3 Health Risk Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS761494650 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS761495014 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS761495177 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
RS761496130 NR5A1 Health Risk Conflicting classifications of pathogenicity Oligosynaptic infertility, 46
RS761496908 KNG1 Health Risk Pathogenic High molecular weight kininogen deficiency, High molecular weight kininogen deficiency
RS761499667 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS761500193 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PIEZO1-related disorder
RS761500258 CC2D1A Health Risk Pathogenic —
RS761501958 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS761502278 MLC1 Health Risk Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS761502781 RTTN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761502897 CPLANE1 Health Risk Pathogenic —
RS761503137 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS761503203 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS761503297 UBQLN2 Health Risk Conflicting classifications of pathogenicity —
RS761504128 CD27 Health Risk Likely pathogenic —
RS761504464 IFT172 Health Risk Likely pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS761505217 SCN5A Health Risk Pathogenic/Likely pathogenic Brugada syndrome, Cardiovascular phenotype
RS761505231 ZMYND10 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS761505396 RYR2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS761505485 SCN5A Health Risk Conflicting classifications of pathogenicity Sick sinus syndrome 1, Dilated cardiomyopathy 1E
RS761505767 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS761507504 CSRP3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M
RS761508149 MYLK Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS761508385 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761511141 ACOX1 Health Risk Likely pathogenic Mitchell syndrome, Mitchell syndrome
RS761512189 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS761512367 TYK2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS761515078 PPA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761515593 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS761515806 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS761516140 TRNT1 Health Risk Conflicting classifications of pathogenicity Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
RS761516178 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS76151636 ATP7B Health Risk Pathogenic Wilson disease, Inborn genetic diseases
RS761516512 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS761516738 LAMC3 Health Risk Likely pathogenic Occipital pachygyria and polymicrogyria, Occipital pachygyria and polymicrogyria
RS761516740 DNAI2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS761517421 COPA Health Risk Conflicting classifications of pathogenicity Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases
RS76151804 CFTR Health Risk Pathogenic Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS761519187 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS761519681 CACNA1D Health Risk Conflicting classifications of pathogenicity CACNA1D-related disorder, CACNA1D-related disorder
RS761519693 FLG Health Risk Pathogenic/Likely pathogenic Ichthyosis vulgaris, Ichthyosis vulgaris
RS761519737 FANCG Health Risk Pathogenic Fanconi anemia complementation group G, Fanconi anemia
RS761522694 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS761523326 KCNH5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, Early-infantile DEE
RS761523501 HSPG2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761524468 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS761524542 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS761524773 TMC8 Health Risk Likely pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS761525156 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia
RS761526890 KCNJ8 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS761527468 KARS1 Health Risk Pathogenic/Likely pathogenic Leukoencephalopathy, progressive
RS761528498 COL18A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761528809 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS761529282 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS761529786 DHTKD1 Health Risk Conflicting classifications of pathogenicity 2-aminoadipic 2-oxoadipic aciduria, Inborn genetic diseases
RS761530861 SLC26A1 Health Risk Conflicting classifications of pathogenicity Nephrolithiasis susceptibility caused by SLC26A1, Hypersulfaturia
RS761531039 TRPM1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1C, Congenital stationary night blindness 1C
RS761531673 ASH1L Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 52
RS761532715 PKDCC Health Risk Pathogenic Inborn genetic diseases, Rhizomelic limb shortening with dysmorphic features
RS761533286 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS761533681 SLC1A4 Health Risk Pathogenic/Likely pathogenic Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, Inborn genetic diseases
RS761533713 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS761533717 GPR179 Health Risk Likely pathogenic —
RS761534024 VCL Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiovascular phenotype
RS76153575 LRSAM1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, Familial pancreatic carcinoma
RS761542135 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS761542502 AMPD2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9
RS761542549 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Inborn genetic diseases
RS761543313 PIGH Health Risk Pathogenic Glycosylphosphatidylinositol biosynthesis defect 17, Glycosylphosphatidylinositol biosynthesis defect 17
RS761543680 GIPC3 Health Risk Pathogenic Hearing loss, autosomal recessive
RS761544365 GJC2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hypomyelinating leukodystrophy 2
RS761544849 CUL7 Health Risk Pathogenic —
RS761545315 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Autoinflammatory syndrome
RS761545816 SCP2 Health Risk Conflicting classifications of pathogenicity SCP2-related disorder, SCP2-related disorder
RS761545914 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS761546140 PJVK Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 59, Autosomal recessive nonsyndromic hearing loss 59
RS761546594 CTRC Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS761546902 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, SMARCAL1-related disorder
RS761547193 PKHD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 4, Polycystic kidney disease 4
RS761549734 DOCK6 Health Risk Likely pathogenic Adams-Oliver syndrome 2, Adams-Oliver syndrome 2
RS761550284 GALC Health Risk Pathogenic/Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS761550303 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS761550940 TMC8 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS761551156 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS761551284 ADSL Health Risk Likely pathogenic Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS761551642 KDM6A Health Risk Likely pathogenic —
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