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rs587784396

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784396(C;T)
Make rs587784396(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position42929712
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs587784396
dbSNP (classic)rs587784396
ClinGenrs587784396
ebirs587784396
HLIrs587784396
Exacrs587784396
Gnomadrs587784396
Varsomers587784396
LitVarrs587784396
Maprs587784396
PheGenIrs587784396
Biobankrs587784396
1000 genomesrs587784396
hgdprs587784396
ensemblrs587784396
geneviewrs587784396
scholarrs587784396
googlers587784396
pharmgkbrs587784396
gwascentralrs587784396
openSNPrs587784396
23andMers587784396
SNPshotrs587784396
SNPdbers587784396
MSV3drs587784396
GWAS Ctlgrs587784396
Max Magnitude0
ClinVar
Risk rs587784396(T;T)
Alt rs587784396(T;T)
Reference Rs587784396(C;C)
Significance Pathogenic
Disease GLUT1 deficiency syndrome 1 not provided
Variation info
Gene SLC2A1
CLNDBN GLUT1 deficiency syndrome 1 not provided
Reversed 1
HGVS NC_000001.10:g.43395383G>A
CLNSRC
CLNACC RCV000147531.1, RCV000189359.1,