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rs367543254

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs367543254(C;C)
Make rs367543254(C;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647664
GeneGALT
is asnp
is mentioned by
dbSNPrs367543254
ebirs367543254
HLIrs367543254
Exacrs367543254
Varsomers367543254
Maprs367543254
PheGenIrs367543254
hapmaprs367543254
1000 genomesrs367543254
hgdprs367543254
ensemblrs367543254
gopubmedrs367543254
geneviewrs367543254
scholarrs367543254
googlers367543254
pharmgkbrs367543254
gwascentralrs367543254
openSNPrs367543254
23andMers367543254
23andMe allrs367543254
SNP Nexus

SNPshotrs367543254
SNPdbers367543254
MSV3drs367543254
GWAS Ctlgrs367543254
Max Magnitude0
ClinVar
Risk rs367543254(C;C)
Alt rs367543254(C;C)
Reference rs367543254(T;T)
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.34647661T>C
CLNSRC ARUP GALT
CLNACC RCV000022088.1,


[PMID 18956253] Low allelic heterogeneity in a sample of Mexican patients with classical galactosaemia.