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rs121909740

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909740(A;A)
Make rs121909740(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position42929637
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs121909740
ebirs121909740
HLIrs121909740
Exacrs121909740
Varsomers121909740
Maprs121909740
PheGenIrs121909740
hapmaprs121909740
1000 genomesrs121909740
hgdprs121909740
ensemblrs121909740
gopubmedrs121909740
geneviewrs121909740
scholarrs121909740
googlers121909740
pharmgkbrs121909740
gwascentralrs121909740
openSNPrs121909740
23andMers121909740
23andMe allrs121909740
SNP Nexus

SNPshotrs121909740
SNPdbers121909740
MSV3drs121909740
GWAS Ctlgrs121909740
Max Magnitude0
OMIM138140
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121909740(A;A)
Alt rs121909740(A;A)
Reference rs121909740(G;G)
Significance Pathogenic
Disease GLUT1 deficiency syndrome 2 Glucose transporter type 1 deficiency syndrome not provided
Variation info
Gene SLC2A1
CLNDBN GLUT1 deficiency syndrome 2 Glucose transporter type 1 deficiency syndrome not provided
Reversed 1
HGVS NC_000001.10:g.43395308C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017494.23, RCV000147534.1, RCV000189361.1,