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rs367543259

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs367543259(C;T)
Make rs367543259(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648149
GeneGALT
is asnp
is mentioned by
dbSNPrs367543259
ebirs367543259
HLIrs367543259
Exacrs367543259
Varsomers367543259
Maprs367543259
PheGenIrs367543259
hapmaprs367543259
1000 genomesrs367543259
hgdprs367543259
ensemblrs367543259
gopubmedrs367543259
geneviewrs367543259
scholarrs367543259
googlers367543259
pharmgkbrs367543259
gwascentralrs367543259
openSNPrs367543259
23andMers367543259
23andMe allrs367543259
SNP Nexus

SNPshotrs367543259
SNPdbers367543259
MSV3drs367543259
GWAS Ctlgrs367543259
Max Magnitude0
ClinVar
Risk rs367543259(T;T)
Alt rs367543259(T;T)
Reference rs367543259(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.34648146C>T
CLNSRC ARUP GALT
CLNACC RCV000022144.1,