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rs1057519549

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519549(C;T)
Make rs1057519549(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position26567655
GeneGABRB3
is asnp
is mentioned by
dbSNPrs1057519549
dbSNP (old)rs1057519549
ClinGenrs1057519549
ebirs1057519549
HLIrs1057519549
Exacrs1057519549
Gnomadrs1057519549
Varsomers1057519549
Maprs1057519549
PheGenIrs1057519549
Biobankrs1057519549
1000 genomesrs1057519549
hgdprs1057519549
ensemblrs1057519549
gopubmedrs1057519549
geneviewrs1057519549
scholarrs1057519549
googlers1057519549
pharmgkbrs1057519549
gwascentralrs1057519549
openSNPrs1057519549
23andMers1057519549
23andMe allrs1057519549
SNPshotrs1057519549
SNPdbers1057519549
MSV3drs1057519549
GWAS Ctlgrs1057519549
Max Magnitude0
ClinVar
Risk rs1057519549(T;T)
Alt rs1057519549(T;T)
Reference Rs1057519549(C;C)
Significance Probable-Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene GABRB3
CLNDBN Epileptic encephalopathy
Reversed 1
HGVS NC_000015.9:g.26812802G>A
CLNSRC
CLNACC RCV000416942.1,