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rs111033651

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CAGCT;CAGCT) 0 common in clinvar
(TCAGC;TCAGC) 0 common in clinvar
Make rs111033651(-;-)
Make rs111033651(-;CAGCT)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647140
GeneGALT
is asnp
is mentioned by
dbSNPrs111033651
ebirs111033651
HLIrs111033651
Exacrs111033651
Varsomers111033651
Maprs111033651
PheGenIrs111033651
hapmaprs111033651
1000 genomesrs111033651
hgdprs111033651
ensemblrs111033651
gopubmedrs111033651
geneviewrs111033651
scholarrs111033651
googlers111033651
pharmgkbrs111033651
gwascentralrs111033651
openSNPrs111033651
23andMers111033651
23andMe allrs111033651
SNP Nexus

SNPshotrs111033651
SNPdbers111033651
MSV3drs111033651
GWAS Ctlgrs111033651
Max Magnitude0
ClinVar
Risk rs111033651(;)
Alt rs111033651(;)
Reference rs111033651(TCAGC;TCAGC)
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.34647137_34647141delCAGCT
CLNSRC ARUP GALT
CLNACC RCV000022058.1,