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rs398123179

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAC;AAC) 0 common in clinvar
(ACA;ACA) 0 common in clinvar
Make rs398123179(-;-)
Make rs398123179(-;AAC)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647528
GeneGALT
is asnp
is mentioned by
dbSNPrs398123179
ebirs398123179
HLIrs398123179
Exacrs398123179
Varsomers398123179
Maprs398123179
PheGenIrs398123179
hapmaprs398123179
1000 genomesrs398123179
hgdprs398123179
ensemblrs398123179
gopubmedrs398123179
geneviewrs398123179
scholarrs398123179
googlers398123179
pharmgkbrs398123179
gwascentralrs398123179
openSNPrs398123179
23andMers398123179
23andMe allrs398123179
SNP Nexus

SNPshotrs398123179
SNPdbers398123179
MSV3drs398123179
GWAS Ctlgrs398123179
Max Magnitude0
ClinVar
Risk rs398123179(;)
Alt rs398123179(;)
Reference rs398123179(ACA;ACA)
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.34647525_34647527delAAC
CLNSRC HGMD
CLNACC RCV000078216.4,