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rs193302887

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193302887(C;C)
Make rs193302887(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position119029300
GeneSLC37A4
is asnp
is mentioned by
dbSNPrs193302887
dbSNP (classic)rs193302887
ClinGenrs193302887
ebirs193302887
HLIrs193302887
Exacrs193302887
Gnomadrs193302887
Varsomers193302887
LitVarrs193302887
Maprs193302887
PheGenIrs193302887
Biobankrs193302887
1000 genomesrs193302887
hgdprs193302887
ensemblrs193302887
geneviewrs193302887
scholarrs193302887
googlers193302887
pharmgkbrs193302887
gwascentralrs193302887
openSNPrs193302887
23andMers193302887
SNPshotrs193302887
SNPdbers193302887
MSV3drs193302887
GWAS Ctlgrs193302887
Max Magnitude0
ClinVar
Risk rs193302887(C;C)
Alt rs193302887(C;C)
Reference Rs193302887(T;T)
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.118900010A>G
CLNSRC UniProtKB (variants)
CLNACC RCV000059139.1, RCV000169003.1,