rs121918412

Orientation

minus

Stabilized

minus

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

Make rs121918412(A;G)

Make rs121918412(G;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

151851392

Gene

GLRA1

is a	snp
is	mentioned by
dbSNP	rs121918412
dbSNP (classic)	rs121918412
ClinGen	rs121918412
ebi	rs121918412
HLI	rs121918412
Exac	rs121918412
Gnomad	rs121918412
Varsome	rs121918412
LitVar	rs121918412
Map	rs121918412
PheGenI	rs121918412
Biobank	rs121918412
1000 genomes	rs121918412
hgdp	rs121918412
ensembl	rs121918412
geneview	rs121918412
scholar	rs121918412
google	rs121918412
pharmgkb	rs121918412
gwascentral	rs121918412
openSNP	rs121918412
23andMe	rs121918412
SNPshot	rs121918412
SNPdbe	rs121918412
MSV3d	rs121918412
GWAS Ctlg	rs121918412

Max Magnitude

0

OMIM	138491
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121918412(G;G)
Alt	rs121918412(G;G)
Reference	Rs121918412(A;A)
Significance	Pathogenic
Disease	Hyperekplexia hereditary
Variation	info
Gene	GLRA1
CLNDBN	Hyperekplexia hereditary
Reversed	1
HGVS	NC_000005.9:g.151230953T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017443.30,