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rs367543256

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs367543256(A;A)
Make rs367543256(A;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647850
GeneGALT
is asnp
is mentioned by
dbSNPrs367543256
ebirs367543256
HLIrs367543256
Exacrs367543256
Varsomers367543256
Maprs367543256
PheGenIrs367543256
hapmaprs367543256
1000 genomesrs367543256
hgdprs367543256
ensemblrs367543256
gopubmedrs367543256
geneviewrs367543256
scholarrs367543256
googlers367543256
pharmgkbrs367543256
gwascentralrs367543256
openSNPrs367543256
23andMers367543256
23andMe allrs367543256
SNP Nexus

SNPshotrs367543256
SNPdbers367543256
MSV3drs367543256
GWAS Ctlgrs367543256
Max Magnitude0
ClinVar
Risk rs367543256(A,T;A,T)
Alt rs367543256(A,T;A,T)
Reference rs367543256(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.34647847C>A
CLNSRC ARUP GALT
CLNACC RCV000022103.1,