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rs398123184

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398123184(C;C)
Make rs398123184(C;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648337
GeneGALT
is asnp
is mentioned by
dbSNPrs398123184
ebirs398123184
HLIrs398123184
Exacrs398123184
Varsomers398123184
Maprs398123184
PheGenIrs398123184
hapmaprs398123184
1000 genomesrs398123184
hgdprs398123184
ensemblrs398123184
gopubmedrs398123184
geneviewrs398123184
scholarrs398123184
googlers398123184
pharmgkbrs398123184
gwascentralrs398123184
openSNPrs398123184
23andMers398123184
23andMe allrs398123184
SNP Nexus

SNPshotrs398123184
SNPdbers398123184
MSV3drs398123184
GWAS Ctlgrs398123184
Max Magnitude0
ClinVar
Risk rs398123184(C;C)
Alt rs398123184(C;C)
Reference rs398123184(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.34648334T>C
CLNSRC ClinVar Emory University
CLNACC RCV000078229.4,