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rs121908047

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908047(A;A)
Make rs121908047(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position23798188
GeneGALE
is asnp
is mentioned by
dbSNPrs121908047
ebirs121908047
HLIrs121908047
Exacrs121908047
Varsomers121908047
Maprs121908047
PheGenIrs121908047
hapmaprs121908047
1000 genomesrs121908047
hgdprs121908047
ensemblrs121908047
gopubmedrs121908047
geneviewrs121908047
scholarrs121908047
googlers121908047
pharmgkbrs121908047
gwascentralrs121908047
openSNPrs121908047
23andMers121908047
23andMe allrs121908047
SNP Nexus

SNPshotrs121908047
SNPdbers121908047
MSV3drs121908047
GWAS Ctlgrs121908047
Max Magnitude0
OMIM606953
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121908047(A;A)
Alt rs121908047(A;A)
Reference rs121908047(G;G)
Significance Pathogenic
Disease Galactose epimerase deficiency UDPglucose-4-epimerase deficiency
Variation info
Gene GALE
CLNDBN Galactose epimerase deficiency, severe UDPglucose-4-epimerase deficiency
Reversed 1
HGVS NC_000001.10:g.24124678C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003867.3, RCV000020292.1,