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
RS2038702746 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Meckel-Gruber syndrome
RS2038702963 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS2038706856 PTPN11 Health Risk Likely pathogenic Noonan syndrome 1, Noonan syndrome 1
RS2038713813 PTPN11 Health Risk Likely pathogenic RASopathy, RASopathy
RS2038715253 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2038723552 ZFHX3 Health Risk Likely pathogenic Moyamoya angiopathy, Moyamoya angiopathy
RS2038731369 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS2038736631 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases
RS2038744386 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS2038752283 ABCC2 Health Risk Pathogenic —
RS2038760864 CFAP298 Health Risk Pathogenic Primary ciliary dyskinesia 26, Primary ciliary dyskinesia 26
RS2038770461 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS2038778316 GYS1 Health Risk Likely pathogenic Glycogen storage disease, Glycogen storage disease
RS2038785200 ABCC2 Health Risk Likely pathogenic —
RS2038788369 ABCC2 Health Risk Pathogenic/Likely pathogenic Dubin-Johnson syndrome, Dubin-Johnson syndrome
RS2038821887 ABCC2 Health Risk Pathogenic —
RS2038825509 CLCN7 Health Risk Pathogenic Autosomal dominant osteopetrosis 2, CLCN7-related disorder
RS2038838513 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS2038844292 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2038844790 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2038850050 CLCN7 Health Risk Likely pathogenic —
RS2038865240 CIITA Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS2038884150 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS2038909213 USH1G Health Risk Pathogenic —
RS2038915208 CEP290 Health Risk Likely pathogenic Joubert syndrome, Nephronophthisis
RS2038919221 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2038922133 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS2038926434 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2038930076 USH1G Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1G, Usher syndrome type 1G
RS2038940533 LOXHD1 Health Risk Likely pathogenic —
RS2038943096 ATCAY Health Risk Pathogenic —
RS2038953746 CFAP298 Health Risk Pathogenic —
RS2038967116 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2038967261 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2038967521 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2038968872 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2038969261 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2038969615 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS2038978870 MTM1 Health Risk Likely pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2038979352 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2038987366 POLD1 Health Risk Conflicting classifications of pathogenicity POLD1-related disorder, POLD1-related disorder
RS2038999395 ETFA Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2039024047 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2039038743 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2039038796 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS2039040448 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS2039041225 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2039042313 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2039044722 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS2039058807 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2039062513 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 15, Spastic paraplegia
RS2039064081 ETFA Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2039074823 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039075542 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039076227 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2039077331 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS2039077507 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039078843 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS2039079300 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039098098 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2039109372 MEGF8 Health Risk Likely pathogenic MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome
RS2039109846 CHSY1 Health Risk Pathogenic Temtamy preaxial brachydactyly syndrome, Temtamy preaxial brachydactyly syndrome
RS2039116471 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2039117815 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2039118159 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2039119649 TTC21A Health Risk Likely pathogenic TTC21A-related disorder, TTC21A-related disorder
RS2039119852 SLC24A5 Health Risk Likely pathogenic —
RS2039120342 GAA Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type II
RS2039122730 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS2039131123 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS2039141441 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS2039143109 GAA Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type II
RS2039146031 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS2039149745 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS2039150286 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS2039153749 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS2039156731 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2039157751 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2039158032 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS2039161082 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2039181631 CIITA Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS2039190879 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2039191420 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2039191855 GAA Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type II
RS2039192386 GAA Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type II
RS2039192921 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2039195145 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2039198631 CIITA Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS2039204524 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2039208042 ATL1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS2039212985 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS2039213824 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2039215098 GAA Health Risk Pathogenic —
RS2039216097 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2039216816 GAA Health Risk Likely pathogenic —
RS2039217093 GAA Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type II
RS2039218006 CEP290 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS2039222879 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2039228359 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2039235887 ADAMTS17 Health Risk Likely pathogenic —
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