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rs587784397

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784397(C;T)
Make rs587784397(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position42929613
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs587784397
ebirs587784397
HLIrs587784397
Exacrs587784397
Varsomers587784397
Maprs587784397
PheGenIrs587784397
hapmaprs587784397
1000 genomesrs587784397
hgdprs587784397
ensemblrs587784397
gopubmedrs587784397
geneviewrs587784397
scholarrs587784397
googlers587784397
pharmgkbrs587784397
gwascentralrs587784397
openSNPrs587784397
23andMers587784397
23andMe allrs587784397
SNP Nexus

SNPshotrs587784397
SNPdbers587784397
MSV3drs587784397
GWAS Ctlgrs587784397
Max Magnitude0
ClinVar
Risk rs587784397(T;T)
Alt rs587784397(T;T)
Reference rs587784397(C;C)
Significance Pathogenic
Disease Glucose transporter type 1 deficiency syndrome
Variation info
Gene SLC2A1
CLNDBN Glucose transporter type 1 deficiency syndrome
Reversed 1
HGVS NC_000001.10:g.43395284G>A
CLNSRC Courtagen Life Sciences
CLNACC RCV000147535.2,