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rs137853860

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853860(C;T)
Make rs137853860(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position23796777
GeneGALE
is asnp
is mentioned by
dbSNPrs137853860
ClinGenrs137853860
ebirs137853860
HLIrs137853860
Exacrs137853860
Varsomers137853860
Maprs137853860
PheGenIrs137853860
hapmaprs137853860
1000 genomesrs137853860
hgdprs137853860
ensemblrs137853860
gopubmedrs137853860
geneviewrs137853860
scholarrs137853860
googlers137853860
pharmgkbrs137853860
gwascentralrs137853860
openSNPrs137853860
23andMers137853860
23andMe allrs137853860
SNP Nexus

SNPshotrs137853860
SNPdbers137853860
MSV3drs137853860
GWAS Ctlgrs137853860
Max Magnitude0
ClinVar
Risk rs137853860(T;T)
Alt rs137853860(T;T)
Reference Rs137853860(C;C)
Significance Pathogenic
Disease UDPglucose-4-epimerase deficiency
Variation info
Gene GALE
CLNDBN UDPglucose-4-epimerase deficiency
Reversed 1
HGVS NC_000001.10:g.24123267G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000020294.1,


OMIM230350
Desc
Variant
Relatedalso