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rs202060209

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs202060209(G;T)
Make rs202060209(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position42931047
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs202060209
ebirs202060209
HLIrs202060209
Exacrs202060209
Varsomers202060209
Maprs202060209
PheGenIrs202060209
hapmaprs202060209
1000 genomesrs202060209
hgdprs202060209
ensemblrs202060209
gopubmedrs202060209
geneviewrs202060209
scholarrs202060209
googlers202060209
pharmgkbrs202060209
gwascentralrs202060209
openSNPrs202060209
23andMers202060209
23andMe allrs202060209
SNP Nexus

SNPshotrs202060209
SNPdbers202060209
MSV3drs202060209
GWAS Ctlgrs202060209
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs202060209(A,T;A,T)
Alt rs202060209(A,T;A,T)
Reference rs202060209(G;G)
Significance Pathogenic
Disease GLUT1 deficiency syndrome 2 not specified
Variation info
Gene SLC2A1
CLNDBN GLUT1 deficiency syndrome 2 not specified
Reversed 0
HGVS NC_000001.10:g.43396718G>A; NC_000001.10:g.43396718G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017499.27, RCV000189341.1,