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rs398123181

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123181(C;C)
Make rs398123181(C;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648114
GeneGALT
is asnp
is mentioned by
dbSNPrs398123181
ebirs398123181
HLIrs398123181
Exacrs398123181
Varsomers398123181
Maprs398123181
PheGenIrs398123181
hapmaprs398123181
1000 genomesrs398123181
hgdprs398123181
ensemblrs398123181
gopubmedrs398123181
geneviewrs398123181
scholarrs398123181
googlers398123181
pharmgkbrs398123181
gwascentralrs398123181
openSNPrs398123181
23andMers398123181
23andMe allrs398123181
SNP Nexus

SNPshotrs398123181
SNPdbers398123181
MSV3drs398123181
GWAS Ctlgrs398123181
Max Magnitude0
ClinVar
Risk rs398123181(C;C)
Alt rs398123181(C;C)
Reference rs398123181(G;G)
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.34648111G>C
CLNSRC ClinVar
CLNACC RCV000078224.4,