rs727503940

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs727503940(A;A)

Make rs727503940(A;C)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

161882638

Gene

GABRA1

is a	snp
is	mentioned by
dbSNP	rs727503940
dbSNP (classic)	rs727503940
ClinGen	rs727503940
ebi	rs727503940
HLI	rs727503940
Exac	rs727503940
Gnomad	rs727503940
Varsome	rs727503940
LitVar	rs727503940
Map	rs727503940
PheGenI	rs727503940
Biobank	rs727503940
1000 genomes	rs727503940
hgdp	rs727503940
ensembl	rs727503940
geneview	rs727503940
scholar	rs727503940
google	rs727503940
pharmgkb	rs727503940
gwascentral	rs727503940
openSNP	rs727503940
23andMe	rs727503940
SNPshot	rs727503940
SNPdbe	rs727503940
MSV3d	rs727503940
GWAS Ctlg	rs727503940

Max Magnitude

0

ClinVar
Risk	rs727503940(A;A) rs727503940(T;T)
Alt	rs727503940(A;A) rs727503940(T;T)
Reference	Rs727503940(C;C)
Significance	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; NC_000005.9:g.161309644C>T
CLNSRC
CLNACC	RCV000153293.2, RCV000180187.1, RCV000255903.1,