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rs367543271

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs367543271(G;T)
Make rs367543271(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34649082
GeneGALT
is asnp
is mentioned by
dbSNPrs367543271
ebirs367543271
HLIrs367543271
Exacrs367543271
Varsomers367543271
Maprs367543271
PheGenIrs367543271
hapmaprs367543271
1000 genomesrs367543271
hgdprs367543271
ensemblrs367543271
gopubmedrs367543271
geneviewrs367543271
scholarrs367543271
googlers367543271
pharmgkbrs367543271
gwascentralrs367543271
openSNPrs367543271
23andMers367543271
23andMe allrs367543271
SNP Nexus

SNPshotrs367543271
SNPdbers367543271
MSV3drs367543271
GWAS Ctlgrs367543271
Max Magnitude0
ClinVar
Risk rs367543271(A,T;A,T)
Alt rs367543271(A,T;A,T)
Reference rs367543271(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.34649079G>T
CLNSRC ARUP GALT
CLNACC RCV000032013.4,