rs267606848

Orientation

minus

Stabilized

minus

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

Make rs267606848(A;A)

Make rs267606848(A;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

151851418

Gene

GLRA1

is a	snp
is	mentioned by
dbSNP	rs267606848
dbSNP (classic)	rs267606848
ClinGen	rs267606848
ebi	rs267606848
HLI	rs267606848
Exac	rs267606848
Gnomad	rs267606848
Varsome	rs267606848
LitVar	rs267606848
Map	rs267606848
PheGenI	rs267606848
Biobank	rs267606848
1000 genomes	rs267606848
hgdp	rs267606848
ensembl	rs267606848
geneview	rs267606848
scholar	rs267606848
google	rs267606848
pharmgkb	rs267606848
gwascentral	rs267606848
openSNP	rs267606848
23andMe	rs267606848
SNPshot	rs267606848
SNPdbe	rs267606848
MSV3d	rs267606848
GWAS Ctlg	rs267606848

Max Magnitude

0

ClinVar
Risk	rs267606848(A;A)
Alt	rs267606848(A;A)
Reference	Rs267606848(G;G)
Significance	Pathogenic
Disease	Hyperekplexia hereditary
Variation	info
Gene	GLRA1
CLNDBN	Hyperekplexia hereditary
Reversed	1
HGVS	NC_000005.9:g.151230979C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000017452.29,