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rs111033655

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(ACCCTCTC;ACCCTCTC) 0 common in clinvar
(CCCTCTCA;CCCTCTCA) 0 common in clinvar
Make rs111033655(-;-)
Make rs111033655(-;CCCTCTCA)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647213
GeneGALT
is asnp
is mentioned by
dbSNPrs111033655
ebirs111033655
HLIrs111033655
Exacrs111033655
Varsomers111033655
Maprs111033655
PheGenIrs111033655
hapmaprs111033655
1000 genomesrs111033655
hgdprs111033655
ensemblrs111033655
gopubmedrs111033655
geneviewrs111033655
scholarrs111033655
googlers111033655
pharmgkbrs111033655
gwascentralrs111033655
openSNPrs111033655
23andMers111033655
23andMe allrs111033655
SNP Nexus

SNPshotrs111033655
SNPdbers111033655
MSV3drs111033655
GWAS Ctlgrs111033655
Max Magnitude0
ClinVar
Risk rs111033655(;)
Alt rs111033655(;)
Reference rs111033655(ACCCTCTC;ACCCTCTC)
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.34647210_34647217delCCCTCTCA
CLNSRC ClinVar
CLNACC RCV000022068.1,