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rs587784390

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587784390(A;G)
Make rs587784390(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position42943240
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs587784390
dbSNP (old)rs587784390
ClinGenrs587784390
ebirs587784390
HLIrs587784390
Exacrs587784390
Gnomadrs587784390
Varsomers587784390
Maprs587784390
PheGenIrs587784390
Biobankrs587784390
1000 genomesrs587784390
hgdprs587784390
ensemblrs587784390
gopubmedrs587784390
geneviewrs587784390
scholarrs587784390
googlers587784390
pharmgkbrs587784390
gwascentralrs587784390
openSNPrs587784390
23andMers587784390
23andMe allrs587784390
SNP Nexus

SNPshotrs587784390
SNPdbers587784390
MSV3drs587784390
GWAS Ctlgrs587784390
Max Magnitude0
ClinVar
Risk rs587784390(G;G)
Alt rs587784390(G;G)
Reference Rs587784390(A;A)
Significance Probable-Pathogenic
Disease GLUT1 deficiency syndrome 1
Variation info
Gene SLC2A1
CLNDBN GLUT1 deficiency syndrome 1
Reversed 1
HGVS NC_000001.10:g.43408911T>C
CLNSRC
CLNACC RCV000147518.1,