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rs111033669

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs111033669(A;G)
Make rs111033669(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647529
GeneGALT
is asnp
is mentioned by
dbSNPrs111033669
dbSNP (classic)rs111033669
ClinGenrs111033669
ebirs111033669
HLIrs111033669
Exacrs111033669
Gnomadrs111033669
Varsomers111033669
LitVarrs111033669
Maprs111033669
PheGenIrs111033669
Biobankrs111033669
1000 genomesrs111033669
hgdprs111033669
ensemblrs111033669
geneviewrs111033669
scholarrs111033669
googlers111033669
pharmgkbrs111033669
gwascentralrs111033669
openSNPrs111033669
23andMers111033669
SNPshotrs111033669
SNPdbers111033669
MSV3drs111033669
GWAS Ctlgrs111033669
Max Magnitude0
ClinVar
Risk rs111033669(G;G)
Alt rs111033669(G;G)
Reference Rs111033669(A;A)
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.34647526A>G
CLNSRC HGMD UniProtKB (protein)
CLNACC RCV000022077.4,