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rs1057519449

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057519449(C;C)
Make rs1057519449(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position6687629
GeneSLC13A5
is asnp
is mentioned by
dbSNPrs1057519449
dbSNP (old)rs1057519449
ClinGenrs1057519449
ebirs1057519449
HLIrs1057519449
Exacrs1057519449
Gnomadrs1057519449
Varsomers1057519449
Maprs1057519449
PheGenIrs1057519449
Biobankrs1057519449
1000 genomesrs1057519449
hgdprs1057519449
ensemblrs1057519449
gopubmedrs1057519449
geneviewrs1057519449
scholarrs1057519449
googlers1057519449
pharmgkbrs1057519449
gwascentralrs1057519449
openSNPrs1057519449
23andMers1057519449
23andMe allrs1057519449
SNPshotrs1057519449
SNPdbers1057519449
MSV3drs1057519449
GWAS Ctlgrs1057519449
Max Magnitude0
ClinVar
Risk rs1057519449(C;C)
Alt rs1057519449(C;C)
Reference Rs1057519449(T;T)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene SLC13A5
CLNDBN Epileptic encephalopathy, early infantile, 25
Reversed 1
HGVS NC_000017.10:g.6590948A>G
CLNSRC
CLNACC RCV000416419.1,