rs281864917

Orientation

minus

Stabilized

minus

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

Make rs281864917(C;C)

Make rs281864917(C;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

151851501

Gene

GLRA1

is a	snp
is	mentioned by
dbSNP	rs281864917
dbSNP (classic)	rs281864917
ClinGen	rs281864917
ebi	rs281864917
HLI	rs281864917
Exac	rs281864917
Gnomad	rs281864917
Varsome	rs281864917
LitVar	rs281864917
Map	rs281864917
PheGenI	rs281864917
Biobank	rs281864917
1000 genomes	rs281864917
hgdp	rs281864917
ensembl	rs281864917
geneview	rs281864917
scholar	rs281864917
google	rs281864917
pharmgkb	rs281864917
gwascentral	rs281864917
openSNP	rs281864917
23andMe	rs281864917
SNPshot	rs281864917
SNPdbe	rs281864917
MSV3d	rs281864917
GWAS Ctlg	rs281864917

Max Magnitude

0

ClinVar
Risk	rs281864917(C;C)
Alt	rs281864917(C;C)
Reference	Rs281864917(G;G)
Significance	Pathogenic
Disease	Hyperekplexia hereditary
Variation	info
Gene	GLRA1
CLNDBN	Hyperekplexia hereditary
Reversed	1
HGVS	NC_000005.9:g.151231062C>G
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000031888.2,