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rs121908045

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908045(C;C)
Make rs121908045(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position23797128
GeneGALE
is asnp
is mentioned by
dbSNPrs121908045
ebirs121908045
HLIrs121908045
Exacrs121908045
Varsomers121908045
Maprs121908045
PheGenIrs121908045
hapmaprs121908045
1000 genomesrs121908045
hgdprs121908045
ensemblrs121908045
gopubmedrs121908045
geneviewrs121908045
scholarrs121908045
googlers121908045
pharmgkbrs121908045
gwascentralrs121908045
openSNPrs121908045
23andMers121908045
23andMe allrs121908045
SNP Nexus

SNPshotrs121908045
SNPdbers121908045
MSV3drs121908045
GWAS Ctlgrs121908045
Max Magnitude0
OMIM606953
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121908045(C;C)
Alt rs121908045(C;C)
Reference rs121908045(T;T)
Significance Pathogenic
Disease UDPglucose-4-epimerase deficiency
Variation info
Gene GALE
CLNDBN UDPglucose-4-epimerase deficiency
Reversed 1
HGVS NC_000001.10:g.24123618A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000003860.1,