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rs727503943

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727503943(A;A)
Make rs727503943(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position23797815
GeneGALE
is asnp
is mentioned by
dbSNPrs727503943
ebirs727503943
HLIrs727503943
Exacrs727503943
Varsomers727503943
Maprs727503943
PheGenIrs727503943
hapmaprs727503943
1000 genomesrs727503943
hgdprs727503943
ensemblrs727503943
gopubmedrs727503943
geneviewrs727503943
scholarrs727503943
googlers727503943
pharmgkbrs727503943
gwascentralrs727503943
openSNPrs727503943
23andMers727503943
23andMe allrs727503943
SNP Nexus

SNPshotrs727503943
SNPdbers727503943
MSV3drs727503943
GWAS Ctlgrs727503943
Max Magnitude0
ClinVar
Risk rs727503943(A,T;A,T)
Alt rs727503943(A,T;A,T)
Reference rs727503943(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.24124305G>T
CLNSRC
CLNACC RCV000153301.3,