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rs794727838

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794727838(C;T)
Make rs794727838(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position34648341
GeneGALT
is asnp
is mentioned by
dbSNPrs794727838
ebirs794727838
HLIrs794727838
Exacrs794727838
Varsomers794727838
Maprs794727838
PheGenIrs794727838
hapmaprs794727838
1000 genomesrs794727838
hgdprs794727838
ensemblrs794727838
gopubmedrs794727838
geneviewrs794727838
scholarrs794727838
googlers794727838
pharmgkbrs794727838
gwascentralrs794727838
openSNPrs794727838
23andMers794727838
23andMe allrs794727838
SNP Nexus

SNPshotrs794727838
SNPdbers794727838
MSV3drs794727838
GWAS Ctlgrs794727838
Max Magnitude0
ClinVar
Risk rs794727838(T;T)
Alt rs794727838(T;T)
Reference rs794727838(C;C)
Significance Probable-Pathogenic
Disease Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Variation info
Gene GALT
CLNDBN Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Reversed 0
HGVS NC_000009.11:g.34648338C>T
CLNSRC
CLNACC RCV000179721.1,