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rs397515629

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515629(-;-)
Make rs397515629(-;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position34650381
GeneGALT, IL11RA
is asnp
is mentioned by
dbSNPrs397515629
dbSNP (classic)rs397515629
ClinGenrs397515629
ebirs397515629
HLIrs397515629
Exacrs397515629
Gnomadrs397515629
Varsomers397515629
LitVarrs397515629
Maprs397515629
PheGenIrs397515629
Biobankrs397515629
1000 genomesrs397515629
hgdprs397515629
ensemblrs397515629
geneviewrs397515629
scholarrs397515629
googlers397515629
pharmgkbrs397515629
gwascentralrs397515629
openSNPrs397515629
23andMers397515629
SNPshotrs397515629
SNPdbers397515629
MSV3drs397515629
GWAS Ctlgrs397515629
Max Magnitude0
ClinVar
Risk rs397515629(-;-)
Alt rs397515629(-;-)
Reference Rs397515629(C;C)
Significance Pathogenic
Disease Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Variation info
Gene GALT IL11RA
CLNDBN Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Reversed 0
HGVS NC_000009.11:g.34650378delC
CLNSRC ARUP GALT
CLNACC RCV000022276.1,