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rs761917087

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs761917087(A;A)
Make rs761917087(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position6704000
GeneSLC13A5
is asnp
is mentioned by
dbSNPrs761917087
ebirs761917087
HLIrs761917087
Exacrs761917087
Varsomers761917087
Maprs761917087
PheGenIrs761917087
hapmaprs761917087
1000 genomesrs761917087
hgdprs761917087
ensemblrs761917087
gopubmedrs761917087
geneviewrs761917087
scholarrs761917087
googlers761917087
pharmgkbrs761917087
gwascentralrs761917087
openSNPrs761917087
23andMers761917087
23andMe allrs761917087
SNP Nexus

SNPshotrs761917087
SNPdbers761917087
MSV3drs761917087
GWAS Ctlgrs761917087
Max Magnitude0
ClinVar
Risk rs761917087(A;A)
Alt rs761917087(A;A)
Reference rs761917087(G;G)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene SLC13A5
CLNDBN Epileptic encephalopathy, early infantile, 25
Reversed 0
HGVS NC_000017.10:g.6607319G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000202397.1,