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rs769743354

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs769743354(C;T)
Make rs769743354(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position161854177
GeneGABRA1
is asnp
is mentioned by
dbSNPrs769743354
dbSNP (classic)rs769743354
ClinGenrs769743354
ebirs769743354
HLIrs769743354
Exacrs769743354
Gnomadrs769743354
Varsomers769743354
LitVarrs769743354
Maprs769743354
PheGenIrs769743354
Biobankrs769743354
1000 genomesrs769743354
hgdprs769743354
ensemblrs769743354
geneviewrs769743354
scholarrs769743354
googlers769743354
pharmgkbrs769743354
gwascentralrs769743354
openSNPrs769743354
23andMers769743354
23andMe allrs769743354
SNPshotrs769743354
SNPdbers769743354
MSV3drs769743354
GWAS Ctlgrs769743354
Max Magnitude0
ClinVar
Risk rs769743354(A;A) rs769743354(T;T)
Alt rs769743354(A;A) rs769743354(T;T)
Reference Rs769743354(C;C)
Significance Probable-Pathogenic
Disease Epileptic encephalopathy not provided
Variation info
Gene GABRA1
CLNDBN Epileptic encephalopathy, early infantile, 19 not provided
Reversed 0
HGVS NC_000005.9:g.161281183C>T
CLNSRC
CLNACC RCV000209844.1, RCV000484867.1,