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rs367543272

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs367543272(C;T)
Make rs367543272(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34649464
GeneGALT
is asnp
is mentioned by
dbSNPrs367543272
ebirs367543272
HLIrs367543272
Exacrs367543272
Varsomers367543272
Maprs367543272
PheGenIrs367543272
hapmaprs367543272
1000 genomesrs367543272
hgdprs367543272
ensemblrs367543272
gopubmedrs367543272
geneviewrs367543272
scholarrs367543272
googlers367543272
pharmgkbrs367543272
gwascentralrs367543272
openSNPrs367543272
23andMers367543272
23andMe allrs367543272
SNP Nexus

SNPshotrs367543272
SNPdbers367543272
MSV3drs367543272
GWAS Ctlgrs367543272
Max Magnitude0
ClinVar
Risk rs367543272(T;T)
Alt rs367543272(T;T)
Reference rs367543272(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.34649461C>T
CLNSRC ARUP GALT
CLNACC RCV000032024.1,