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rs267607060

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TC;TC) 0 common in clinvar
Make rs267607060(AT;AT)
Make rs267607060(AT;TC)
ReferenceGRCh38 38.1/141
Chromosome1
Position42930858
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs267607060
ebirs267607060
HLIrs267607060
Exacrs267607060
Varsomers267607060
Maprs267607060
PheGenIrs267607060
hapmaprs267607060
1000 genomesrs267607060
hgdprs267607060
ensemblrs267607060
gopubmedrs267607060
geneviewrs267607060
scholarrs267607060
googlers267607060
pharmgkbrs267607060
gwascentralrs267607060
openSNPrs267607060
23andMers267607060
23andMe allrs267607060
SNP Nexus

SNPshotrs267607060
SNPdbers267607060
MSV3drs267607060
GWAS Ctlgrs267607060
Max Magnitude0
ClinVar
Risk rs267607060(AT;AT)
Alt rs267607060(AT;AT)
Reference rs267607060(TC;TC)
Significance Pathogenic
Disease GLUT1 deficiency syndrome 2
Variation info
Gene SLC2A1
CLNDBN GLUT1 deficiency syndrome 2
Reversed 1
HGVS NC_000001.10:g.43396529_43396530delGAinsAT
CLNSRC OMIM Allelic Variant
CLNACC RCV000017496.27,