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rs727503940

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727503940(A;A)
Make rs727503940(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position161882638
GeneGABRA1
is asnp
is mentioned by
dbSNPrs727503940
ebirs727503940
HLIrs727503940
Exacrs727503940
Varsomers727503940
Maprs727503940
PheGenIrs727503940
hapmaprs727503940
1000 genomesrs727503940
hgdprs727503940
ensemblrs727503940
gopubmedrs727503940
geneviewrs727503940
scholarrs727503940
googlers727503940
pharmgkbrs727503940
gwascentralrs727503940
openSNPrs727503940
23andMers727503940
23andMe allrs727503940
SNP Nexus

SNPshotrs727503940
SNPdbers727503940
MSV3drs727503940
GWAS Ctlgrs727503940
Max Magnitude0
ClinVar
Risk rs727503940(A;A)
Alt rs727503940(A;A)
Reference rs727503940(C;C)
Significance Probable-Pathogenic
Disease not provided Epileptic encephalopathy
Variation info
Gene GABRA1
CLNDBN not provided Epileptic encephalopathy, early infantile, 19
Reversed 0
HGVS NC_000005.9:g.161309644C>A
CLNSRC
CLNACC RCV000153293.2, RCV000180187.1,