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rs587777243

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777243(C;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position792954
GeneSLC25A22
is asnp
is mentioned by
dbSNPrs587777243
ebirs587777243
HLIrs587777243
Exacrs587777243
Varsomers587777243
Maprs587777243
PheGenIrs587777243
hapmaprs587777243
1000 genomesrs587777243
hgdprs587777243
ensemblrs587777243
gopubmedrs587777243
geneviewrs587777243
scholarrs587777243
googlers587777243
pharmgkbrs587777243
gwascentralrs587777243
openSNPrs587777243
23andMers587777243
23andMe allrs587777243
SNP Nexus

SNPshotrs587777243
SNPdbers587777243
MSV3drs587777243
GWAS Ctlgrs587777243
Max Magnitude0
ClinVar
Risk rs587777243(C;C)
Alt rs587777243(C;C)
Reference rs587777243(G;G)
Significance Pathogenic
Disease Early myoclonic encephalopathy
Variation info
Gene SLC25A22
CLNDBN Early myoclonic encephalopathy
Reversed 1
HGVS NC_000011.9:g.792954C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000106389.2,