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rs1057519550

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057519550(A;C)
Make rs1057519550(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position26621403
GeneGABRB3
is asnp
is mentioned by
dbSNPrs1057519550
dbSNP (old)rs1057519550
ClinGenrs1057519550
ebirs1057519550
HLIrs1057519550
Exacrs1057519550
Gnomadrs1057519550
Varsomers1057519550
Maprs1057519550
PheGenIrs1057519550
Biobankrs1057519550
1000 genomesrs1057519550
hgdprs1057519550
ensemblrs1057519550
gopubmedrs1057519550
geneviewrs1057519550
scholarrs1057519550
googlers1057519550
pharmgkbrs1057519550
gwascentralrs1057519550
openSNPrs1057519550
23andMers1057519550
23andMe allrs1057519550
SNPshotrs1057519550
SNPdbers1057519550
MSV3drs1057519550
GWAS Ctlgrs1057519550
Max Magnitude0
ClinVar
Risk rs1057519550(C;C)
Alt rs1057519550(C;C)
Reference Rs1057519550(A;A)
Significance Probable-Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene GABRB3
CLNDBN Epileptic encephalopathy
Reversed 1
HGVS NC_000015.9:g.26866550T>G
CLNSRC
CLNACC RCV000416972.1,