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rs796065334

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs796065334(-;G)
Make rs796065334(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position42929274
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs796065334
dbSNP (classic)rs796065334
ClinGenrs796065334
ebirs796065334
HLIrs796065334
Exacrs796065334
Gnomadrs796065334
Varsomers796065334
LitVarrs796065334
Maprs796065334
PheGenIrs796065334
Biobankrs796065334
1000 genomesrs796065334
hgdprs796065334
ensemblrs796065334
geneviewrs796065334
scholarrs796065334
googlers796065334
pharmgkbrs796065334
gwascentralrs796065334
openSNPrs796065334
23andMers796065334
SNPshotrs796065334
SNPdbers796065334
MSV3drs796065334
GWAS Ctlgrs796065334
Max Magnitude0
ClinVar
Risk rs796065334(G;G)
Alt rs796065334(G;G)
Reference Rs796065334(-;-)
Significance Pathogenic
Disease GLUT1 deficiency syndrome 1 Epilepsy
Variation info
Gene SLC2A1
CLNDBN GLUT1 deficiency syndrome 1 Epilepsy, idiopathic generalized, susceptibility to, 12
Reversed 1
HGVS NC_000001.10:g.43394946dupC
CLNSRC
CLNACC RCV000179917.1, RCV000179918.1,