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rs111033831

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033831(A;A)
Make rs111033831(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648889
GeneGALT
is asnp
is mentioned by
dbSNPrs111033831
dbSNP (classic)rs111033831
ClinGenrs111033831
ebirs111033831
HLIrs111033831
Exacrs111033831
Gnomadrs111033831
Varsomers111033831
LitVarrs111033831
Maprs111033831
PheGenIrs111033831
Biobankrs111033831
1000 genomesrs111033831
hgdprs111033831
ensemblrs111033831
geneviewrs111033831
scholarrs111033831
googlers111033831
pharmgkbrs111033831
gwascentralrs111033831
openSNPrs111033831
23andMers111033831
SNPshotrs111033831
SNPdbers111033831
MSV3drs111033831
GWAS Ctlgrs111033831
Max Magnitude0
ClinVar
Risk rs111033831(A;A)
Alt rs111033831(A;A)
Reference Rs111033831(G;G)
Significance Pathogenic
Disease Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase not specified
Variation info
Gene GALT
CLNDBN Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase not specified
Reversed 0
HGVS NC_000009.11:g.34648886G>A
CLNSRC ARUP GALT
CLNACC RCV000022210.1, RCV000302160.1,