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rs398123187

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398123187(A;G)
Make rs398123187(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position34649408
GeneGALT
is asnp
is mentioned by
dbSNPrs398123187
ebirs398123187
HLIrs398123187
Exacrs398123187
Varsomers398123187
Maprs398123187
PheGenIrs398123187
hapmaprs398123187
1000 genomesrs398123187
hgdprs398123187
ensemblrs398123187
gopubmedrs398123187
geneviewrs398123187
scholarrs398123187
googlers398123187
pharmgkbrs398123187
gwascentralrs398123187
openSNPrs398123187
23andMers398123187
23andMe allrs398123187
SNP Nexus

SNPshotrs398123187
SNPdbers398123187
MSV3drs398123187
GWAS Ctlgrs398123187
Max Magnitude0
ClinVar
Risk rs398123187(G;G)
Alt rs398123187(G;G)
Reference rs398123187(A;A)
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.34649405A>G
CLNSRC ClinVar
CLNACC RCV000078242.4,