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rs111033681

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033681(G;T)
Make rs111033681(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647706
GeneGALT
is asnp
is mentioned by
dbSNPrs111033681
dbSNP (classic)rs111033681
ClinGenrs111033681
ebirs111033681
HLIrs111033681
Exacrs111033681
Gnomadrs111033681
Varsomers111033681
LitVarrs111033681
Maprs111033681
PheGenIrs111033681
Biobankrs111033681
1000 genomesrs111033681
hgdprs111033681
ensemblrs111033681
geneviewrs111033681
scholarrs111033681
googlers111033681
pharmgkbrs111033681
gwascentralrs111033681
openSNPrs111033681
23andMers111033681
SNPshotrs111033681
SNPdbers111033681
MSV3drs111033681
GWAS Ctlgrs111033681
Max Magnitude0
ClinVar
Risk rs111033681(A;A) rs111033681(T;T)
Alt rs111033681(A;A) rs111033681(T;T)
Reference Rs111033681(G;G)
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.34647703G>T
CLNSRC ARUP GALT
CLNACC RCV000022095.1,