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rs367543265

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs367543265(A;A)
Make rs367543265(A;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position34649425
GeneGALT
is asnp
is mentioned by
dbSNPrs367543265
ebirs367543265
HLIrs367543265
Exacrs367543265
Varsomers367543265
Maprs367543265
PheGenIrs367543265
hapmaprs367543265
1000 genomesrs367543265
hgdprs367543265
ensemblrs367543265
gopubmedrs367543265
geneviewrs367543265
scholarrs367543265
googlers367543265
pharmgkbrs367543265
gwascentralrs367543265
openSNPrs367543265
23andMers367543265
23andMe allrs367543265
SNP Nexus

SNPshotrs367543265
SNPdbers367543265
MSV3drs367543265
GWAS Ctlgrs367543265
Max Magnitude0
ClinVar
Risk rs367543265(A;A)
Alt rs367543265(A;A)
Reference rs367543265(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.34649422C>A
CLNSRC ARUP GALT
CLNACC RCV000022231.1,


[PMID 8598637] Mutations in the galactose-1-phosphate uridyltransferase gene of two families with mild galactosaemia variants.