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rs367543257

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs367543257(C;G)
Make rs367543257(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647950
GeneGALT
is asnp
is mentioned by
dbSNPrs367543257
ebirs367543257
HLIrs367543257
Exacrs367543257
Varsomers367543257
Maprs367543257
PheGenIrs367543257
hapmaprs367543257
1000 genomesrs367543257
hgdprs367543257
ensemblrs367543257
gopubmedrs367543257
geneviewrs367543257
scholarrs367543257
googlers367543257
pharmgkbrs367543257
gwascentralrs367543257
openSNPrs367543257
23andMers367543257
23andMe allrs367543257
SNP Nexus

SNPshotrs367543257
SNPdbers367543257
MSV3drs367543257
GWAS Ctlgrs367543257
Max Magnitude0
ClinVar
Risk rs367543257(G;G)
Alt rs367543257(G;G)
Reference rs367543257(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.34647947C>G
CLNSRC ARUP GALT
CLNACC RCV000022123.1,