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rs398123188

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398123188(C;C)
Make rs398123188(C;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34649490
GeneGALT
is asnp
is mentioned by
dbSNPrs398123188
ebirs398123188
HLIrs398123188
Exacrs398123188
Varsomers398123188
Maprs398123188
PheGenIrs398123188
hapmaprs398123188
1000 genomesrs398123188
hgdprs398123188
ensemblrs398123188
gopubmedrs398123188
geneviewrs398123188
scholarrs398123188
googlers398123188
pharmgkbrs398123188
gwascentralrs398123188
openSNPrs398123188
23andMers398123188
23andMe allrs398123188
SNP Nexus

SNPshotrs398123188
SNPdbers398123188
MSV3drs398123188
GWAS Ctlgrs398123188
Max Magnitude0
ClinVar
Risk rs398123188(C;C)
Alt rs398123188(C;C)
Reference rs398123188(T;T)
Significance Probable-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.34649487T>C
CLNSRC ClinVar Emory University
CLNACC RCV000078245.4,