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rs111033813

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033813(-;-)
Make rs111033813(-;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position34649556
GeneGALT
is asnp
is mentioned by
dbSNPrs111033813
ebirs111033813
HLIrs111033813
Exacrs111033813
Varsomers111033813
Maprs111033813
PheGenIrs111033813
hapmaprs111033813
1000 genomesrs111033813
hgdprs111033813
ensemblrs111033813
gopubmedrs111033813
geneviewrs111033813
scholarrs111033813
googlers111033813
pharmgkbrs111033813
gwascentralrs111033813
openSNPrs111033813
23andMers111033813
23andMe allrs111033813
SNP Nexus

SNPshotrs111033813
SNPdbers111033813
MSV3drs111033813
GWAS Ctlgrs111033813
Max Magnitude0
ClinVar
Risk rs111033813(;)
Alt rs111033813(;)
Reference rs111033813(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.34649554delC
CLNSRC ClinVar
CLNACC RCV000173648.2,