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rs587777578

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587777578(A;G)
Make rs587777578(G;G)
ReferenceGRCh38 38.1/142
Chromosome17
Position6687641
GeneSLC13A5
is asnp
is mentioned by
dbSNPrs587777578
ebirs587777578
HLIrs587777578
Exacrs587777578
Varsomers587777578
Maprs587777578
PheGenIrs587777578
hapmaprs587777578
1000 genomesrs587777578
hgdprs587777578
ensemblrs587777578
gopubmedrs587777578
geneviewrs587777578
scholarrs587777578
googlers587777578
pharmgkbrs587777578
gwascentralrs587777578
openSNPrs587777578
23andMers587777578
23andMe allrs587777578
SNP Nexus

SNPshotrs587777578
SNPdbers587777578
MSV3drs587777578
GWAS Ctlgrs587777578
Max Magnitude0
ClinVar
Risk rs587777578(A,G;A,G)
Alt rs587777578(A,G;A,G)
Reference rs587777578(T;T)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene SLC13A5
CLNDBN Epileptic encephalopathy, early infantile, 25
Reversed 1
HGVS NC_000017.10:g.6590960A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000128862.4,