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rs367543263

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs367543263(A;G)
Make rs367543263(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position34649031
GeneGALT
is asnp
is mentioned by
dbSNPrs367543263
dbSNP (classic)rs367543263
ClinGenrs367543263
ebirs367543263
HLIrs367543263
Exacrs367543263
Gnomadrs367543263
Varsomers367543263
LitVarrs367543263
Maprs367543263
PheGenIrs367543263
Biobankrs367543263
1000 genomesrs367543263
hgdprs367543263
ensemblrs367543263
geneviewrs367543263
scholarrs367543263
googlers367543263
pharmgkbrs367543263
gwascentralrs367543263
openSNPrs367543263
23andMers367543263
SNPshotrs367543263
SNPdbers367543263
MSV3drs367543263
GWAS Ctlgrs367543263
Max Magnitude0
ClinVar
Risk rs367543263(G;G)
Alt rs367543263(G;G)
Reference Rs367543263(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.34649028A>G
CLNSRC UniProtKB (protein)
CLNACC RCV000022220.1,