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rs28940884

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
(T;T) 0
Make rs28940884(A;G)
Make rs28940884(G;G)
ReferenceGRCh38 38.1/142
Chromosome1
Position23796722
GeneGALE
is asnp
is mentioned by
dbSNPrs28940884
ebirs28940884
HLIrs28940884
Exacrs28940884
Varsomers28940884
Maprs28940884
PheGenIrs28940884
hapmaprs28940884
1000 genomesrs28940884
hgdprs28940884
ensemblrs28940884
gopubmedrs28940884
geneviewrs28940884
scholarrs28940884
googlers28940884
pharmgkbrs28940884
gwascentralrs28940884
openSNPrs28940884
23andMers28940884
23andMe allrs28940884
SNP Nexus

SNPshotrs28940884
SNPdbers28940884
MSV3drs28940884
GWAS Ctlgrs28940884
GMAF0.002296
Max Magnitude0
? (A;A) (A;G) (G;G) 28
OMIM606953
DescGALACTOSE EPIMERASE DEFICIENCY
Variant0005
Relatedalso
Neighborrs3180383
Distance520


ClinVar
Risk rs28940884(G;G)
Alt rs28940884(G;G)
Reference rs28940884(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.24123212T>C
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000003864.4,