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rs2279020

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs2279020(A;A)
Make rs2279020(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position161895883
GeneGABRA1
is asnp
is mentioned by
dbSNPrs2279020
dbSNP (classic)rs2279020
ClinGenrs2279020
ebirs2279020
HLIrs2279020
Exacrs2279020
Gnomadrs2279020
Varsomers2279020
LitVarrs2279020
Maprs2279020
PheGenIrs2279020
Biobankrs2279020
1000 genomesrs2279020
hgdprs2279020
ensemblrs2279020
geneviewrs2279020
scholarrs2279020
googlers2279020
pharmgkbrs2279020
gwascentralrs2279020
openSNPrs2279020
23andMers2279020
SNPshotrs2279020
SNPdbers2279020
MSV3drs2279020
GWAS Ctlgrs2279020
GMAF0.4174
Max Magnitude0
? (A;A) (A;G) (G;G) 28


[PMID 20356767] Association of alpha subunit of GABA(A) receptor subtype gene polymorphisms with epilepsy susceptibility and drug resistance in north Indian population

[PMID 14569258] Gender-specific contribution of the GABA(A) subunit genes on 5q33 in methamphetamine use disorder.


ClinVar
Risk rs2279020(A;A)
Alt rs2279020(A;A)
Reference Rs2279020(G;G)
Significance Probable-non-pathogenic
Disease not specified Juvenile myoclonic epilepsy
Variation info
Gene GABRA1
CLNDBN not specified Juvenile myoclonic epilepsy
Reversed 0
HGVS NC_000005.9:g.161322889G>A
CLNSRC ClinVar
CLNACC RCV000079317.5, RCV000374016.1,



[PMID 26189305] ABCB1, ABCC2, SCN1A, SCN2A, GABRA1 gene polymorphisms and drug resistant epilepsy in the Chinese Han population