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rs111033715

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033715(C;C)
Make rs111033715(C;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648119
GeneGALT
is asnp
is mentioned by
dbSNPrs111033715
ebirs111033715
HLIrs111033715
Exacrs111033715
Varsomers111033715
Maprs111033715
PheGenIrs111033715
hapmaprs111033715
1000 genomesrs111033715
hgdprs111033715
ensemblrs111033715
gopubmedrs111033715
geneviewrs111033715
scholarrs111033715
googlers111033715
pharmgkbrs111033715
gwascentralrs111033715
openSNPrs111033715
23andMers111033715
23andMe allrs111033715
SNP Nexus

SNPshotrs111033715
SNPdbers111033715
MSV3drs111033715
GWAS Ctlgrs111033715
Max Magnitude0
OMIM606999
Desc
Variant0008
Relatedalso
ClinVar
Risk rs111033715(C;C)
Alt rs111033715(C;C)
Reference rs111033715(T;T)
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.34648116T>C
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000003800.6,