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
RS760292207 MYO7A Health Risk Pathogenic/Likely pathogenic —
RS760292213 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS760292772 CHRNB1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 2A, Inborn genetic diseases
RS760294422 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS760294805 CUL4B Health Risk Conflicting classifications of pathogenicity X-linked intellectual disability Cabezas type, Inborn genetic diseases
RS760296374 IQCB1 Health Risk Pathogenic Senior-Loken syndrome 5, Senior-Loken syndrome 5
RS760297274 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS760297553 KMT2C Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 2, Kleefstra syndrome 2
RS760297650 MED24 Health Risk Likely pathogenic Short stature, Short stature
RS760300454 GALNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS760300569 HECW2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neurodevelopmental disorder with hypotonia
RS760300826 AGTPBP1 Health Risk Pathogenic Neurodegeneration, childhood-onset
RS760301787 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS760302201 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS760303531 GLI3 Health Risk Pathogenic —
RS760304057 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS760304370 ADAMTS18 Health Risk Pathogenic —
RS760304811 WT1 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, 11p partial monosomy syndrome
RS760304866 TTN Health Risk Conflicting classifications of pathogenicity —
RS760304945 TIMM50 Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria type 9, 3-methylglutaconic aciduria type 9
RS760305520 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS760307139 TPO Health Risk Pathogenic Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS760307260 IVD Health Risk Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS760307559 GBA1 Health Risk Pathogenic Gaucher disease, Gaucher disease type I
RS760307737 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy
RS760307887 SPAST Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS760307939 CREBBP Health Risk Conflicting classifications of pathogenicity CREBBP-related disorder, Rubinstein-Taybi syndrome
RS760309219 LIPH Health Risk Pathogenic/Likely pathogenic LIPH-related disorder, LIPH-related disorder
RS760309815 SDR9C7 Health Risk Pathogenic Ichthyosis, congenital
RS760309853 FSCN2 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS760309963 HSF4 Health Risk Likely pathogenic HSF4-related disorder, HSF4-related disorder
RS760310819 CHKB Health Risk Conflicting classifications of pathogenicity Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
RS760311819 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS760312637 LZTR1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS760312819 RGS9 Health Risk Pathogenic Bradyopsia, Bradyopsia
RS760314666 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS760316851 PEX1 Health Risk Conflicting classifications of pathogenicity Zellweger spectrum disorders, PEX1-related Peroxisomal Biogenesis Disorder
RS760317441 LYST Health Risk Pathogenic/Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS760320629 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS760321509 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS760323048 CLCN1 Health Risk Conflicting classifications of pathogenicity Batten-Turner congenital myopathy, Congenital myotonia
RS760323157 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS760323338 TTBK2 Health Risk Conflicting classifications of pathogenicity —
RS760324503 XPC Health Risk Likely pathogenic Xeroderma pigmentosum, Xeroderma pigmentosum
RS760325316 CEBPE Health Risk Pathogenic Specific granule deficiency, Specific granule deficiency
RS760325562 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group D2
RS760326198 ATP5F1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760326604 SLC34A3 Health Risk Likely pathogenic —
RS760327691 COQ8A Health Risk Likely pathogenic —
RS760329013 AHR Health Risk Conflicting classifications of pathogenicity —
RS760329266 FLCN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS760329559 POLD1 Health Risk Conflicting classifications of pathogenicity Malignant tumor of breast, Colorectal cancer
RS760329766 CYP11B2 Health Risk Pathogenic Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency
RS760330151 COL11A1 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 1, Stickler syndrome type 2
RS760331451 SLC45A2 Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 4, Oculocutaneous albinism type 4
RS760332753 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS760332763 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Deafness
RS760333190 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS760333915 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS760333930 CYP17A1 Health Risk Pathogenic —
RS760334505 CDC20 Health Risk Pathogenic Oocyte maturation defect 14, Oocyte maturation defect 14
RS760334885 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiomyopathy
RS760335676 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS760337154 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS760337365 CRTAP Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS760337383 WFS1 Health Risk Pathogenic WFS1-Related Spectrum Disorders, Wolfram syndrome 1
RS760338602 TRPM1 Health Risk Likely pathogenic —
RS760338913 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS760339298 CYP11B2 Health Risk Conflicting classifications of pathogenicity Corticosterone methyloxidase type 2 deficiency, Corticosterone 18-monooxygenase deficiency
RS760339634 SBF1 Health Risk Conflicting classifications of pathogenicity —
RS760340908 TTN Health Risk Conflicting classifications of pathogenicity —
RS760341957 DEPDC5 Health Risk Conflicting classifications of pathogenicity Familial focal epilepsy with variable foci, Inborn genetic diseases
RS760342154 COG7 Health Risk Conflicting classifications of pathogenicity COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation
RS760342643 COL18A1 Health Risk Conflicting classifications of pathogenicity Knobloch syndrome 1, Inborn genetic diseases
RS760342862 LRBA Health Risk Pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS760343056 PDE6C Health Risk Pathogenic/Likely pathogenic Cone dystrophy 4, Cone dystrophy 4
RS760343963 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Inborn genetic diseases
RS760344791 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS760345436 AVP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760345680 FDXR Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Auditory neuropathy-optic atrophy syndrome
RS760346286 ABCA1 Health Risk Conflicting classifications of pathogenicity Hypoalphalipoproteinemia, primary
RS760348444 KIF7 Health Risk Pathogenic Inborn genetic diseases, Acrocallosal syndrome
RS760348512 SLC24A1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1D, Inborn genetic diseases
RS760349476 CSPP1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 21, Inborn genetic diseases
RS760350445 TCIRG1 Health Risk Pathogenic —
RS760351175 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS760351849 HSF4 Health Risk Conflicting classifications of pathogenicity Cataract 5 multiple types, HSF4-related disorder
RS760352559 POMC Health Risk Conflicting classifications of pathogenicity Obesity, Obesity due to pro-opiomelanocortin deficiency
RS760352719 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS760352870 SLC26A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS760353830 ABCA4 Health Risk Pathogenic —
RS760354881 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS760355143 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Renal-hepatic-pancreatic dysplasia 1
RS760355583 LAMB2 Health Risk Pathogenic LAMB2-related disorder, LAMB2-related disorder
RS760356067 ARHGAP31 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ARHGAP31-related disorder
RS760356610 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS760356703 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS760357573 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760360724 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary cancer-predisposing syndrome
RS760361423 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
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