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rs794726971

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726971(A;A)
Make rs794726971(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position34649409
GeneGALT
is asnp
is mentioned by
dbSNPrs794726971
ebirs794726971
HLIrs794726971
Exacrs794726971
Varsomers794726971
Maprs794726971
PheGenIrs794726971
hapmaprs794726971
1000 genomesrs794726971
hgdprs794726971
ensemblrs794726971
gopubmedrs794726971
geneviewrs794726971
scholarrs794726971
googlers794726971
pharmgkbrs794726971
gwascentralrs794726971
openSNPrs794726971
23andMers794726971
23andMe allrs794726971
SNP Nexus

SNPshotrs794726971
SNPdbers794726971
MSV3drs794726971
GWAS Ctlgrs794726971
Max Magnitude0
ClinVar
Risk rs794726971(A;A)
Alt rs794726971(A;A)
Reference rs794726971(G;G)
Significance 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.34649406G>A
CLNSRC
CLNACC RCV000173649.1,