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rs137853859

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853859(C;T)
Make rs137853859(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position23797718
GeneGALE
is asnp
is mentioned by
dbSNPrs137853859
ebirs137853859
HLIrs137853859
Exacrs137853859
Varsomers137853859
Maprs137853859
PheGenIrs137853859
hapmaprs137853859
1000 genomesrs137853859
hgdprs137853859
ensemblrs137853859
gopubmedrs137853859
geneviewrs137853859
scholarrs137853859
googlers137853859
pharmgkbrs137853859
gwascentralrs137853859
openSNPrs137853859
23andMers137853859
23andMe allrs137853859
SNP Nexus

SNPshotrs137853859
SNPdbers137853859
MSV3drs137853859
GWAS Ctlgrs137853859
Max Magnitude0
ClinVar
Risk rs137853859(A,T;A,T)
Alt rs137853859(A,T;A,T)
Reference rs137853859(C;C)
Significance Pathogenic
Disease UDPglucose-4-epimerase deficiency
Variation info
Gene GALE
CLNDBN UDPglucose-4-epimerase deficiency
Reversed 1
HGVS NC_000001.10:g.24124208G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020293.2,


OMIM230350
Desc
Variant
Relatedalso