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rs794727702

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs794727702(-;-)
Make rs794727702(-;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position23798196
GeneGALE
is asnp
is mentioned by
dbSNPrs794727702
ebirs794727702
HLIrs794727702
Exacrs794727702
Varsomers794727702
Maprs794727702
PheGenIrs794727702
hapmaprs794727702
1000 genomesrs794727702
hgdprs794727702
ensemblrs794727702
gopubmedrs794727702
geneviewrs794727702
scholarrs794727702
googlers794727702
pharmgkbrs794727702
gwascentralrs794727702
openSNPrs794727702
23andMers794727702
23andMe allrs794727702
SNP Nexus

SNPshotrs794727702
SNPdbers794727702
MSV3drs794727702
GWAS Ctlgrs794727702
Max Magnitude0
ClinVar
Risk rs794727702(;)
Alt rs794727702(;)
Reference rs794727702(T;T)
Significance Pathogenic
Disease UDPglucose-4-epimerase deficiency
Variation info
Gene GALE
CLNDBN UDPglucose-4-epimerase deficiency
Reversed 1
HGVS NC_000001.10:g.24124686delA
CLNSRC
CLNACC RCV000178764.1,