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rs150203483

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs150203483(C;T)
Make rs150203483(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position6695759
GeneSLC13A5
is asnp
is mentioned by
dbSNPrs150203483
ebirs150203483
HLIrs150203483
Exacrs150203483
Varsomers150203483
Maprs150203483
PheGenIrs150203483
hapmaprs150203483
1000 genomesrs150203483
hgdprs150203483
ensemblrs150203483
gopubmedrs150203483
geneviewrs150203483
scholarrs150203483
googlers150203483
pharmgkbrs150203483
gwascentralrs150203483
openSNPrs150203483
23andMers150203483
23andMe allrs150203483
SNP Nexus

SNPshotrs150203483
SNPdbers150203483
MSV3drs150203483
GWAS Ctlgrs150203483
Max Magnitude0
ClinVar
Risk rs150203483(T;T)
Alt rs150203483(T;T)
Reference rs150203483(C;C)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene SLC13A5
CLNDBN Epileptic encephalopathy, early infantile, 25
Reversed 0
HGVS NC_000017.10:g.6599078C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000202400.1,