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rs397515628

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs397515628(-;T)
Make rs397515628(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647864
GeneGALT
is asnp
is mentioned by
dbSNPrs397515628
dbSNP (classic)rs397515628
ClinGenrs397515628
ebirs397515628
HLIrs397515628
Exacrs397515628
Gnomadrs397515628
Varsomers397515628
LitVarrs397515628
Maprs397515628
PheGenIrs397515628
Biobankrs397515628
1000 genomesrs397515628
hgdprs397515628
ensemblrs397515628
geneviewrs397515628
scholarrs397515628
googlers397515628
pharmgkbrs397515628
gwascentralrs397515628
openSNPrs397515628
23andMers397515628
SNPshotrs397515628
SNPdbers397515628
MSV3drs397515628
GWAS Ctlgrs397515628
Max Magnitude0
ClinVar
Risk rs397515628(T;T)
Alt rs397515628(T;T)
Reference Rs397515628(-;-)
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.34647861dupT
CLNSRC ClinVar
CLNACC RCV000022106.1,