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rs587777307

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777307(A;A)
Make rs587777307(A;G)
ReferenceGRCh38 38.1/142
Chromosome5
Position161890945
GeneGABRA1
is asnp
is mentioned by
dbSNPrs587777307
ebirs587777307
HLIrs587777307
Exacrs587777307
Varsomers587777307
Maprs587777307
PheGenIrs587777307
hapmaprs587777307
1000 genomesrs587777307
hgdprs587777307
ensemblrs587777307
gopubmedrs587777307
geneviewrs587777307
scholarrs587777307
googlers587777307
pharmgkbrs587777307
gwascentralrs587777307
openSNPrs587777307
23andMers587777307
23andMe allrs587777307
SNP Nexus

SNPshotrs587777307
SNPdbers587777307
MSV3drs587777307
GWAS Ctlgrs587777307
Max Magnitude0
ClinVar
Risk rs587777307(A;A)
Alt rs587777307(A;A)
Reference rs587777307(G;G)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene GABRA1
CLNDBN Epileptic encephalopathy, early infantile, 19
Reversed 0
HGVS NC_000005.9:g.161317951G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000114936.2,