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rs111033639

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs111033639(A;G)
Make rs111033639(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position34646705
GeneGALT
is asnp
is mentioned by
dbSNPrs111033639
dbSNP (classic)rs111033639
ClinGenrs111033639
ebirs111033639
HLIrs111033639
Exacrs111033639
Gnomadrs111033639
Varsomers111033639
LitVarrs111033639
Maprs111033639
PheGenIrs111033639
Biobankrs111033639
1000 genomesrs111033639
hgdprs111033639
ensemblrs111033639
geneviewrs111033639
scholarrs111033639
googlers111033639
pharmgkbrs111033639
gwascentralrs111033639
openSNPrs111033639
23andMers111033639
SNPshotrs111033639
SNPdbers111033639
MSV3drs111033639
GWAS Ctlgrs111033639
Max Magnitude0
ClinVar
Risk rs111033639(G;G)
Alt rs111033639(G;G)
Reference Rs111033639(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.34646702A>G
CLNSRC ARUP GALT
CLNACC RCV000022038.1,