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rs267607061

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607061(C;T)
Make rs267607061(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position42930865
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs267607061
ebirs267607061
HLIrs267607061
Exacrs267607061
Varsomers267607061
Maprs267607061
PheGenIrs267607061
hapmaprs267607061
1000 genomesrs267607061
hgdprs267607061
ensemblrs267607061
gopubmedrs267607061
geneviewrs267607061
scholarrs267607061
googlers267607061
pharmgkbrs267607061
gwascentralrs267607061
openSNPrs267607061
23andMers267607061
23andMe allrs267607061
SNP Nexus

SNPshotrs267607061
SNPdbers267607061
MSV3drs267607061
GWAS Ctlgrs267607061
Max Magnitude0
ClinVar
Risk rs267607061(T;T)
Alt rs267607061(T;T)
Reference rs267607061(C;C)
Significance Pathogenic
Disease GLUT1 deficiency syndrome 2
Variation info
Gene SLC2A1
CLNDBN GLUT1 deficiency syndrome 2
Reversed 1
HGVS NC_000001.10:g.43396536G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000030922.27,