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rs28940882

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(G;G) 0 common in complete genomics
Make rs28940882(A;A)
Make rs28940882(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position23798199
GeneGALE
is asnp
is mentioned by
dbSNPrs28940882
ebirs28940882
HLIrs28940882
Exacrs28940882
Varsomers28940882
Maprs28940882
PheGenIrs28940882
hapmaprs28940882
1000 genomesrs28940882
hgdprs28940882
ensemblrs28940882
gopubmedrs28940882
geneviewrs28940882
scholarrs28940882
googlers28940882
pharmgkbrs28940882
gwascentralrs28940882
openSNPrs28940882
23andMers28940882
23andMe allrs28940882
SNP Nexus

SNPshotrs28940882
SNPdbers28940882
MSV3drs28940882
GWAS Ctlgrs28940882
Max Magnitude0
OMIM606953
DescGALACTOSE EPIMERASE DEFICIENCY
Variant0003
Relatedalso
Neighborrs28940883
Distance39


ClinVar
Risk rs28940882(A;A)
Alt rs28940882(A;A)
Reference rs28940882(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.24124689C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003862.1,