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rs111033662

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs111033662(-;-)
Make rs111033662(-;CT)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647226
GeneGALT
is asnp
is mentioned by
dbSNPrs111033662
ClinGenrs111033662
ebirs111033662
HLIrs111033662
Exacrs111033662
Varsomers111033662
Maprs111033662
PheGenIrs111033662
hapmaprs111033662
1000 genomesrs111033662
hgdprs111033662
ensemblrs111033662
gopubmedrs111033662
geneviewrs111033662
scholarrs111033662
googlers111033662
pharmgkbrs111033662
gwascentralrs111033662
openSNPrs111033662
23andMers111033662
23andMe allrs111033662
SNP Nexus

SNPshotrs111033662
SNPdbers111033662
MSV3drs111033662
GWAS Ctlgrs111033662
Max Magnitude0
ClinVar
Risk rs111033662(-;-)
Alt rs111033662(-;-)
Reference Rs111033662(CT;CT)
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.34647223_34647224delCT
CLNSRC ClinVar
CLNACC RCV000032010.1,