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rs137853861

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853861(A;A)
Make rs137853861(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position23796234
GeneGALE
is asnp
is mentioned by
dbSNPrs137853861
ebirs137853861
HLIrs137853861
Exacrs137853861
Varsomers137853861
Maprs137853861
PheGenIrs137853861
hapmaprs137853861
1000 genomesrs137853861
hgdprs137853861
ensemblrs137853861
gopubmedrs137853861
geneviewrs137853861
scholarrs137853861
googlers137853861
pharmgkbrs137853861
gwascentralrs137853861
openSNPrs137853861
23andMers137853861
23andMe allrs137853861
SNP Nexus

SNPshotrs137853861
SNPdbers137853861
MSV3drs137853861
GWAS Ctlgrs137853861
Max Magnitude0
ClinVar
Risk rs137853861(A;A)
Alt rs137853861(A;A)
Reference rs137853861(G;G)
Significance Pathogenic
Disease UDPglucose-4-epimerase deficiency
Variation info
Gene GALE
CLNDBN UDPglucose-4-epimerase deficiency
Reversed 1
HGVS NC_000001.10:g.24122724C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020295.1,


OMIM230350
Desc
Variant
Relatedalso