rs281864918

Orientation

minus

Stabilized

minus

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

Make rs281864918(A;A)

Make rs281864918(A;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

151851463

Gene

GLRA1

is a	snp
is	mentioned by
dbSNP	rs281864918
dbSNP (classic)	rs281864918
ClinGen	rs281864918
ebi	rs281864918
HLI	rs281864918
Exac	rs281864918
Gnomad	rs281864918
Varsome	rs281864918
LitVar	rs281864918
Map	rs281864918
PheGenI	rs281864918
Biobank	rs281864918
1000 genomes	rs281864918
hgdp	rs281864918
ensembl	rs281864918
geneview	rs281864918
scholar	rs281864918
google	rs281864918
pharmgkb	rs281864918
gwascentral	rs281864918
openSNP	rs281864918
23andMe	rs281864918
SNPshot	rs281864918
SNPdbe	rs281864918
MSV3d	rs281864918
GWAS Ctlg	rs281864918

Max Magnitude

0

ClinVar
Risk	rs281864918(A;A)
Alt	rs281864918(A;A)
Reference	Rs281864918(G;G)
Significance	Pathogenic
Disease	Hyperekplexia hereditary
Variation	info
Gene	GLRA1
CLNDBN	Hyperekplexia hereditary
Reversed	1
HGVS	NC_000005.9:g.151231024C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000031896.1,