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rs111033801

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033801(-;-)
Make rs111033801(-;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position34649484
GeneGALT
is asnp
is mentioned by
dbSNPrs111033801
ebirs111033801
HLIrs111033801
Exacrs111033801
Varsomers111033801
Maprs111033801
PheGenIrs111033801
hapmaprs111033801
1000 genomesrs111033801
hgdprs111033801
ensemblrs111033801
gopubmedrs111033801
geneviewrs111033801
scholarrs111033801
googlers111033801
pharmgkbrs111033801
gwascentralrs111033801
openSNPrs111033801
23andMers111033801
23andMe allrs111033801
SNP Nexus

SNPshotrs111033801
SNPdbers111033801
MSV3drs111033801
GWAS Ctlgrs111033801
Max Magnitude0
ClinVar
Risk rs111033801(;)
Alt rs111033801(;)
Reference rs111033801(C;C)
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.34649481delC
CLNSRC ClinVar
CLNACC RCV000022252.1,