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rs367543267

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs367543267(A;G)
Make rs367543267(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position34649473
GeneGALT
is asnp
is mentioned by
dbSNPrs367543267
dbSNP (classic)rs367543267
ClinGenrs367543267
ebirs367543267
HLIrs367543267
Exacrs367543267
Gnomadrs367543267
Varsomers367543267
LitVarrs367543267
Maprs367543267
PheGenIrs367543267
Biobankrs367543267
1000 genomesrs367543267
hgdprs367543267
ensemblrs367543267
geneviewrs367543267
scholarrs367543267
googlers367543267
pharmgkbrs367543267
gwascentralrs367543267
openSNPrs367543267
23andMers367543267
SNPshotrs367543267
SNPdbers367543267
MSV3drs367543267
GWAS Ctlgrs367543267
Max Magnitude0
ClinVar
Risk rs367543267(G;G)
Alt rs367543267(G;G)
Reference Rs367543267(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.34649470A>G
CLNSRC ARUP GALT
CLNACC RCV000022247.1,