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rs111033827

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs111033827(A;C)
Make rs111033827(C;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position34650449
GeneGALT, IL11RA
is asnp
is mentioned by
dbSNPrs111033827
dbSNP (classic)rs111033827
ClinGenrs111033827
ebirs111033827
HLIrs111033827
Exacrs111033827
Gnomadrs111033827
Varsomers111033827
LitVarrs111033827
Maprs111033827
PheGenIrs111033827
Biobankrs111033827
1000 genomesrs111033827
hgdprs111033827
ensemblrs111033827
geneviewrs111033827
scholarrs111033827
googlers111033827
pharmgkbrs111033827
gwascentralrs111033827
openSNPrs111033827
23andMers111033827
SNPshotrs111033827
SNPdbers111033827
MSV3drs111033827
GWAS Ctlgrs111033827
Max Magnitude0
ClinVar
Risk rs111033827(C;C)
Alt rs111033827(C;C)
Reference Rs111033827(A;A)
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.34650446A>C
CLNSRC ARUP GALT
CLNACC RCV000022282.1,