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rs367543266

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs367543266(C;T)
Make rs367543266(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34649466
GeneGALT
is asnp
is mentioned by
dbSNPrs367543266
ebirs367543266
HLIrs367543266
Exacrs367543266
Varsomers367543266
Maprs367543266
PheGenIrs367543266
hapmaprs367543266
1000 genomesrs367543266
hgdprs367543266
ensemblrs367543266
gopubmedrs367543266
geneviewrs367543266
scholarrs367543266
googlers367543266
pharmgkbrs367543266
gwascentralrs367543266
openSNPrs367543266
23andMers367543266
23andMe allrs367543266
SNP Nexus

SNPshotrs367543266
SNPdbers367543266
MSV3drs367543266
GWAS Ctlgrs367543266
Max Magnitude0
ClinVar
Risk rs367543266(T;T)
Alt rs367543266(T;T)
Reference rs367543266(C;C)
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.34649463C>T
CLNSRC ARUP GALT
CLNACC RCV000022244.1,


[PMID 12595586] Verbal dyspraxia and galactosemia.