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rs28940885

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs28940885(A;A)
Make rs28940885(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position23796183
GeneGALE
is asnp
is mentioned by
dbSNPrs28940885
ebirs28940885
HLIrs28940885
Exacrs28940885
Varsomers28940885
Maprs28940885
PheGenIrs28940885
hapmaprs28940885
1000 genomesrs28940885
hgdprs28940885
ensemblrs28940885
gopubmedrs28940885
geneviewrs28940885
scholarrs28940885
googlers28940885
pharmgkbrs28940885
gwascentralrs28940885
openSNPrs28940885
23andMers28940885
23andMe allrs28940885
SNP Nexus

SNPshotrs28940885
SNPdbers28940885
MSV3drs28940885
GWAS Ctlgrs28940885
GMAF0.001377
Max Magnitude0
OMIM606953
DescGALACTOSE EPIMERASE DEFICIENCY
Variant0007
Relatedalso
Neighborrs3180383
Distance19


ClinVar
Risk rs28940885(A;A)
Alt rs28940885(A;A)
Reference rs28940885(G;G)
Significance Pathogenic
Disease UDPglucose-4-epimerase deficiency not provided
Variation info
Gene GALE
CLNDBN UDPglucose-4-epimerase deficiency not provided
Reversed 1
HGVS NC_000001.10:g.24122673C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000003866.1, RCV000078697.4,



GET Evidence
GALE-G319E
aa_change Gly319Glu
aa_change_short G319E
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.00158022
summary