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rs587784391

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784391(-;-)
Make rs587784391(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position42927794
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs587784391
dbSNP (classic)rs587784391
ClinGenrs587784391
ebirs587784391
HLIrs587784391
Exacrs587784391
Gnomadrs587784391
Varsomers587784391
LitVarrs587784391
Maprs587784391
PheGenIrs587784391
Biobankrs587784391
1000 genomesrs587784391
hgdprs587784391
ensemblrs587784391
geneviewrs587784391
scholarrs587784391
googlers587784391
pharmgkbrs587784391
gwascentralrs587784391
openSNPrs587784391
23andMers587784391
SNPshotrs587784391
SNPdbers587784391
MSV3drs587784391
GWAS Ctlgrs587784391
Max Magnitude0
ClinVar
Risk rs587784391(-;-)
Alt rs587784391(-;-)
Reference Rs587784391(G;G)
Significance Pathogenic
Disease GLUT1 deficiency syndrome 1
Variation info
Gene SLC2A1
CLNDBN GLUT1 deficiency syndrome 1
Reversed 1
HGVS NC_000001.10:g.43393465delC
CLNSRC
CLNACC RCV000147519.1,