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rs111033772

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033772(C;G)
Make rs111033772(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position34649021
GeneGALT
is asnp
is mentioned by
dbSNPrs111033772
dbSNP (classic)rs111033772
ClinGenrs111033772
ebirs111033772
HLIrs111033772
Exacrs111033772
Gnomadrs111033772
Varsomers111033772
LitVarrs111033772
Maprs111033772
PheGenIrs111033772
Biobankrs111033772
1000 genomesrs111033772
hgdprs111033772
ensemblrs111033772
geneviewrs111033772
scholarrs111033772
googlers111033772
pharmgkbrs111033772
gwascentralrs111033772
openSNPrs111033772
23andMers111033772
SNPshotrs111033772
SNPdbers111033772
MSV3drs111033772
GWAS Ctlgrs111033772
Max Magnitude0
ClinVar
Risk rs111033772(G;G)
Alt rs111033772(G;G)
Reference Rs111033772(C;C)
Significance Other
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.34649018C>G
CLNSRC HGMD UniProtKB (protein)
CLNACC RCV000022218.6,