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rs111033832

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033832(C;C)
Make rs111033832(C;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34649485
GeneGALT
is asnp
is mentioned by
dbSNPrs111033832
dbSNP (classic)rs111033832
ClinGenrs111033832
ebirs111033832
HLIrs111033832
Exacrs111033832
Gnomadrs111033832
Varsomers111033832
LitVarrs111033832
Maprs111033832
PheGenIrs111033832
Biobankrs111033832
1000 genomesrs111033832
hgdprs111033832
ensemblrs111033832
geneviewrs111033832
scholarrs111033832
googlers111033832
pharmgkbrs111033832
gwascentralrs111033832
openSNPrs111033832
23andMers111033832
SNPshotrs111033832
SNPdbers111033832
MSV3drs111033832
GWAS Ctlgrs111033832
Max Magnitude0
ClinVar
Risk rs111033832(C;C)
Alt rs111033832(C;C)
Reference Rs111033832(T;T)
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.34649482T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000022253.1,