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rs267607059

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607059(C;T)
Make rs267607059(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position42927118
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs267607059
ebirs267607059
HLIrs267607059
Exacrs267607059
Varsomers267607059
Maprs267607059
PheGenIrs267607059
hapmaprs267607059
1000 genomesrs267607059
hgdprs267607059
ensemblrs267607059
gopubmedrs267607059
geneviewrs267607059
scholarrs267607059
googlers267607059
pharmgkbrs267607059
gwascentralrs267607059
openSNPrs267607059
23andMers267607059
23andMe allrs267607059
SNP Nexus

SNPshotrs267607059
SNPdbers267607059
MSV3drs267607059
GWAS Ctlgrs267607059
Max Magnitude0
ClinVar
Risk rs267607059(T;T)
Alt rs267607059(T;T)
Reference rs267607059(C;C)
Significance Pathogenic
Disease GLUT1 deficiency syndrome 1
Variation info
Gene SLC2A1
CLNDBN GLUT1 deficiency syndrome 1, autosomal recessive
Reversed 1
HGVS NC_000001.10:g.43392789G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017500.23,