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rs193302888

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193302888(C;T)
Make rs193302888(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position119027681
GeneSLC37A4
is asnp
is mentioned by
dbSNPrs193302888
dbSNP (classic)rs193302888
ClinGenrs193302888
ebirs193302888
HLIrs193302888
Exacrs193302888
Gnomadrs193302888
Varsomers193302888
LitVarrs193302888
Maprs193302888
PheGenIrs193302888
Biobankrs193302888
1000 genomesrs193302888
hgdprs193302888
ensemblrs193302888
geneviewrs193302888
scholarrs193302888
googlers193302888
pharmgkbrs193302888
gwascentralrs193302888
openSNPrs193302888
23andMers193302888
SNPshotrs193302888
SNPdbers193302888
MSV3drs193302888
GWAS Ctlgrs193302888
Max Magnitude0
ClinVar
Risk rs193302888(T;T)
Alt rs193302888(T;T)
Reference Rs193302888(C;C)
Significance Probable-Pathogenic
Disease not provided Glucose-6-phosphate transport defect
Variation info
Gene SLC37A4
CLNDBN not provided Glucose-6-phosphate transport defect
Reversed 1
HGVS NC_000011.9:g.118898391G>A
CLNSRC UniProtKB (variants)
CLNACC RCV000059136.1, RCV000169286.1,