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rs121908046

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121908046(A;G)
Make rs121908046(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position23798907
GeneGALE
is asnp
is mentioned by
dbSNPrs121908046
ebirs121908046
HLIrs121908046
Exacrs121908046
Varsomers121908046
Maprs121908046
PheGenIrs121908046
hapmaprs121908046
1000 genomesrs121908046
hgdprs121908046
ensemblrs121908046
gopubmedrs121908046
geneviewrs121908046
scholarrs121908046
googlers121908046
pharmgkbrs121908046
gwascentralrs121908046
openSNPrs121908046
23andMers121908046
23andMe allrs121908046
SNP Nexus

SNPshotrs121908046
SNPdbers121908046
MSV3drs121908046
GWAS Ctlgrs121908046
Max Magnitude0
OMIM606953
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908046(G;G)
Alt rs121908046(G;G)
Reference rs121908046(A;A)
Significance Pathogenic
Disease UDPglucose-4-epimerase deficiency
Variation info
Gene GALE
CLNDBN UDPglucose-4-epimerase deficiency
Reversed 1
HGVS NC_000001.10:g.24125397T>C
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000003861.6,