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rs111033635

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs111033635(A;G)
Make rs111033635(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position34646771
GeneGALT
is asnp
is mentioned by
dbSNPrs111033635
dbSNP (classic)rs111033635
ClinGenrs111033635
ebirs111033635
HLIrs111033635
Exacrs111033635
Gnomadrs111033635
Varsomers111033635
LitVarrs111033635
Maprs111033635
PheGenIrs111033635
Biobankrs111033635
1000 genomesrs111033635
hgdprs111033635
ensemblrs111033635
geneviewrs111033635
scholarrs111033635
googlers111033635
pharmgkbrs111033635
gwascentralrs111033635
openSNPrs111033635
23andMers111033635
SNPshotrs111033635
SNPdbers111033635
MSV3drs111033635
GWAS Ctlgrs111033635
Max Magnitude0
ClinVar
Risk rs111033635(G;G)
Alt rs111033635(G;G)
Reference Rs111033635(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.34646768A>G
CLNSRC UniProtKB (protein)
CLNACC RCV000022044.1,