Have questions? Visit https://www.reddit.com/r/SNPedia

rs587777309

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587777309(A;C)
Make rs587777309(C;C)
ReferenceGRCh38 38.1/142
Chromosome5
Position161895726
GeneGABRA1
is asnp
is mentioned by
dbSNPrs587777309
ebirs587777309
HLIrs587777309
Exacrs587777309
Varsomers587777309
Maprs587777309
PheGenIrs587777309
hapmaprs587777309
1000 genomesrs587777309
hgdprs587777309
ensemblrs587777309
gopubmedrs587777309
geneviewrs587777309
scholarrs587777309
googlers587777309
pharmgkbrs587777309
gwascentralrs587777309
openSNPrs587777309
23andMers587777309
23andMe allrs587777309
SNP Nexus

SNPshotrs587777309
SNPdbers587777309
MSV3drs587777309
GWAS Ctlgrs587777309
Max Magnitude0
ClinVar
Risk rs587777309(C;C)
Alt rs587777309(C;C)
Reference rs587777309(A;A)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene GABRA1
CLNDBN Epileptic encephalopathy, early infantile, 19
Reversed 0
HGVS NC_000005.9:g.161322732A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000114938.2,