rs281864912

Orientation

minus

Stabilized

minus

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

Make rs281864912(G;T)

Make rs281864912(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

151859973

Gene

GLRA1

is a	snp
is	mentioned by
dbSNP	rs281864912
dbSNP (classic)	rs281864912
ClinGen	rs281864912
ebi	rs281864912
HLI	rs281864912
Exac	rs281864912
Gnomad	rs281864912
Varsome	rs281864912
LitVar	rs281864912
Map	rs281864912
PheGenI	rs281864912
Biobank	rs281864912
1000 genomes	rs281864912
hgdp	rs281864912
ensembl	rs281864912
geneview	rs281864912
scholar	rs281864912
google	rs281864912
pharmgkb	rs281864912
gwascentral	rs281864912
openSNP	rs281864912
23andMe	rs281864912
SNPshot	rs281864912
SNPdbe	rs281864912
MSV3d	rs281864912
GWAS Ctlg	rs281864912

Max Magnitude

0

ClinVar
Risk	rs281864912(T;T)
Alt	rs281864912(T;T)
Reference	Rs281864912(G;G)
Significance	Pathogenic
Disease	Hyperekplexia hereditary
Variation	info
Gene	GLRA1
CLNDBN	Hyperekplexia hereditary
Reversed	1
HGVS	NC_000005.9:g.151239534C>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000031894.1,