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rs111033721

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033721(A;A)
Make rs111033721(A;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648154
GeneGALT
is asnp
is mentioned by
dbSNPrs111033721
ebirs111033721
HLIrs111033721
Exacrs111033721
Varsomers111033721
Maprs111033721
PheGenIrs111033721
hapmaprs111033721
1000 genomesrs111033721
hgdprs111033721
ensemblrs111033721
gopubmedrs111033721
geneviewrs111033721
scholarrs111033721
googlers111033721
pharmgkbrs111033721
gwascentralrs111033721
openSNPrs111033721
23andMers111033721
23andMe allrs111033721
SNP Nexus

SNPshotrs111033721
SNPdbers111033721
MSV3drs111033721
GWAS Ctlgrs111033721
Max Magnitude0
OMIM606999
Desc
Variant0011
Relatedalso
ClinVar
Risk rs111033721(A;A)
Alt rs111033721(A;A)
Reference rs111033721(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.34648151C>A
CLNSRC ARUP GALT OMIM Allelic Variant
CLNACC RCV000003803.1,