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rs111033770

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GCC;GCC) 0 common in clinvar
Make rs111033770(-;-)
Make rs111033770(-;GCC)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648842
GeneGALT
is asnp
is mentioned by
dbSNPrs111033770
ebirs111033770
HLIrs111033770
Exacrs111033770
Varsomers111033770
Maprs111033770
PheGenIrs111033770
hapmaprs111033770
1000 genomesrs111033770
hgdprs111033770
ensemblrs111033770
gopubmedrs111033770
geneviewrs111033770
scholarrs111033770
googlers111033770
pharmgkbrs111033770
gwascentralrs111033770
openSNPrs111033770
23andMers111033770
23andMe allrs111033770
SNP Nexus

SNPshotrs111033770
SNPdbers111033770
MSV3drs111033770
GWAS Ctlgrs111033770
Max Magnitude0
ClinVar
Risk rs111033770(;)
Alt rs111033770(;)
Reference rs111033770(GCC;GCC)
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.34648839_34648841delGCC
CLNSRC ClinVar
CLNACC RCV000022198.1,