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rs111033838

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(ACTGGTTAGT;ACTGGTTAGT) 0 common in clinvar
(TAGTACTGGT;TAGTACTGGT) 0 common in clinvar
Make rs111033838(-;-)
Make rs111033838(-;TAGTACTGGT)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648793
GeneGALT
is asnp
is mentioned by
dbSNPrs111033838
ebirs111033838
HLIrs111033838
Exacrs111033838
Varsomers111033838
Maprs111033838
PheGenIrs111033838
hapmaprs111033838
1000 genomesrs111033838
hgdprs111033838
ensemblrs111033838
gopubmedrs111033838
geneviewrs111033838
scholarrs111033838
googlers111033838
pharmgkbrs111033838
gwascentralrs111033838
openSNPrs111033838
23andMers111033838
23andMe allrs111033838
SNP Nexus

SNPshotrs111033838
SNPdbers111033838
MSV3drs111033838
GWAS Ctlgrs111033838
Max Magnitude0
ClinVar
Risk rs111033838(;)
Alt rs111033838(;)
Reference rs111033838(ACTGGTTAGT;ACTGGTTAGT)
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.34648790_34648799delTAGTACTGGT
CLNSRC ClinVar
CLNACC RCV000022188.1,