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rs111033823

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033823(C;T)
Make rs111033823(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34650417
GeneGALT, IL11RA
is asnp
is mentioned by
dbSNPrs111033823
dbSNP (classic)rs111033823
ClinGenrs111033823
ebirs111033823
HLIrs111033823
Exacrs111033823
Gnomadrs111033823
Varsomers111033823
LitVarrs111033823
Maprs111033823
PheGenIrs111033823
Biobankrs111033823
1000 genomesrs111033823
hgdprs111033823
ensemblrs111033823
geneviewrs111033823
scholarrs111033823
googlers111033823
pharmgkbrs111033823
gwascentralrs111033823
openSNPrs111033823
23andMers111033823
SNPshotrs111033823
SNPdbers111033823
MSV3drs111033823
GWAS Ctlgrs111033823
Max Magnitude0
ClinVar
Risk rs111033823(T;T)
Alt rs111033823(T;T)
Reference Rs111033823(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.34650414C>T
CLNSRC ARUP GALT
CLNACC RCV000022279.1,