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rs587784393

From SNPedia

Orientationminus
Geno Mag Summary
(AAGCTGACGG;AAGCTGACGG) 0 common in clinvar
Make rs587784393(-;-)
Make rs587784393(-;AAGCTGACGG)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position42943312
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs587784393
ebirs587784393
HLIrs587784393
Exacrs587784393
Varsomers587784393
Maprs587784393
PheGenIrs587784393
hapmaprs587784393
1000 genomesrs587784393
hgdprs587784393
ensemblrs587784393
gopubmedrs587784393
geneviewrs587784393
scholarrs587784393
googlers587784393
pharmgkbrs587784393
gwascentralrs587784393
openSNPrs587784393
23andMers587784393
23andMe allrs587784393
SNP Nexus

SNPshotrs587784393
SNPdbers587784393
MSV3drs587784393
GWAS Ctlgrs587784393
Max Magnitude0
ClinVar
Risk rs587784393(;)
Alt rs587784393(;)
Reference rs587784393(AAGCTGACGG;AAGCTGACGG)
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.43408983_43408992delCCGTCAGCTT
CLNSRC
CLNACC RCV000147524.1,