rs121918417

Orientation

minus

Stabilized

minus

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

Make rs121918417(C;G)

Make rs121918417(G;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

151851525

Gene

GLRA1

is a	snp
is	mentioned by
dbSNP	rs121918417
dbSNP (classic)	rs121918417
ClinGen	rs121918417
ebi	rs121918417
HLI	rs121918417
Exac	rs121918417
Gnomad	rs121918417
Varsome	rs121918417
LitVar	rs121918417
Map	rs121918417
PheGenI	rs121918417
Biobank	rs121918417
1000 genomes	rs121918417
hgdp	rs121918417
ensembl	rs121918417
geneview	rs121918417
scholar	rs121918417
google	rs121918417
pharmgkb	rs121918417
gwascentral	rs121918417
openSNP	rs121918417
23andMe	rs121918417
SNPshot	rs121918417
SNPdbe	rs121918417
MSV3d	rs121918417
GWAS Ctlg	rs121918417

Merged from

Rs28933073

Max Magnitude

0

OMIM	138491
Desc
Variant	0012
Related	also

ClinVar
Risk	rs121918417(G;G)
Alt	rs121918417(G;G)
Reference	Rs121918417(C;C)
Significance	Pathogenic
Disease	Hyperekplexia hereditary
Variation	info
Gene	GLRA1
CLNDBN	Hyperekplexia hereditary
Reversed	1
HGVS	NC_000005.9:g.151231086G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000017449.26,