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rs794727870

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794727870(A;A)
Make rs794727870(A;C)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position42929244
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs794727870
ebirs794727870
HLIrs794727870
Exacrs794727870
Varsomers794727870
Maprs794727870
PheGenIrs794727870
hapmaprs794727870
1000 genomesrs794727870
hgdprs794727870
ensemblrs794727870
gopubmedrs794727870
geneviewrs794727870
scholarrs794727870
googlers794727870
pharmgkbrs794727870
gwascentralrs794727870
openSNPrs794727870
23andMers794727870
23andMe allrs794727870
SNP Nexus

SNPshotrs794727870
SNPdbers794727870
MSV3drs794727870
GWAS Ctlgrs794727870
Max Magnitude0
ClinVar
Risk rs794727870(A;A)
Alt rs794727870(A;A)
Reference rs794727870(C;C)
Significance Probable-Pathogenic
Disease GLUT1 deficiency syndrome 2 not provided
Variation info
Gene SLC2A1
CLNDBN GLUT1 deficiency syndrome 2 not provided
Reversed 1
HGVS NC_000001.10:g.43394915G>A; NC_000001.10:g.43394915G>T
CLNSRC
CLNACC RCV000209836.1, RCV000179922.1,