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rs587777577

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777577(A;A)
Make rs587777577(A;G)
ReferenceGRCh38 38.1/142
Chromosome17
Position6703006
GeneSLC13A5
is asnp
is mentioned by
dbSNPrs587777577
dbSNP (classic)rs587777577
ClinGenrs587777577
ebirs587777577
HLIrs587777577
Exacrs587777577
Gnomadrs587777577
Varsomers587777577
LitVarrs587777577
Maprs587777577
PheGenIrs587777577
Biobankrs587777577
1000 genomesrs587777577
hgdprs587777577
ensemblrs587777577
geneviewrs587777577
scholarrs587777577
googlers587777577
pharmgkbrs587777577
gwascentralrs587777577
openSNPrs587777577
23andMers587777577
SNPshotrs587777577
SNPdbers587777577
MSV3drs587777577
GWAS Ctlgrs587777577
Max Magnitude0
ClinVar
Risk rs587777577(A;A)
Alt rs587777577(A;A)
Reference Rs587777577(G;G)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene SLC13A5
CLNDBN Epileptic encephalopathy, early infantile, 25
Reversed 0
HGVS NC_000017.10:g.6606325G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000128861.5,