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rs111033714

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033714(C;C)
Make rs111033714(C;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648110
GeneGALT
is asnp
is mentioned by
dbSNPrs111033714
ebirs111033714
HLIrs111033714
Exacrs111033714
Varsomers111033714
Maprs111033714
PheGenIrs111033714
hapmaprs111033714
1000 genomesrs111033714
hgdprs111033714
ensemblrs111033714
gopubmedrs111033714
geneviewrs111033714
scholarrs111033714
googlers111033714
pharmgkbrs111033714
gwascentralrs111033714
openSNPrs111033714
23andMers111033714
23andMe allrs111033714
SNP Nexus

SNPshotrs111033714
SNPdbers111033714
MSV3drs111033714
GWAS Ctlgrs111033714
Max Magnitude0
ClinVar
Risk rs111033714(C;C)
Alt rs111033714(C;C)
Reference rs111033714(G;G)
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.34648107G>C
CLNSRC ARUP GALT
CLNACC RCV000022134.1,