rs121918418

Orientation

minus

Stabilized

minus

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

Make rs121918418(A;A)

Make rs121918418(A;C)

Reference

GRCh38 38.1/141

Chromosome

5

Position

151829009

Gene

GLRA1

is a	snp
is	mentioned by
dbSNP	rs121918418
dbSNP (classic)	rs121918418
ClinGen	rs121918418
ebi	rs121918418
HLI	rs121918418
Exac	rs121918418
Gnomad	rs121918418
Varsome	rs121918418
LitVar	rs121918418
Map	rs121918418
PheGenI	rs121918418
Biobank	rs121918418
1000 genomes	rs121918418
hgdp	rs121918418
ensembl	rs121918418
geneview	rs121918418
scholar	rs121918418
google	rs121918418
pharmgkb	rs121918418
gwascentral	rs121918418
openSNP	rs121918418
23andMe	rs121918418
SNPshot	rs121918418
SNPdbe	rs121918418
MSV3d	rs121918418
GWAS Ctlg	rs121918418

Max Magnitude

0

OMIM	138491
Desc
Variant	0014
Related	also

ClinVar
Risk	rs121918418(A;A)
Alt	rs121918418(A;A)
Reference	Rs121918418(C;C)
Significance	Pathogenic
Disease	Hyperekplexia hereditary
Variation	info
Gene	GLRA1
CLNDBN	Hyperekplexia hereditary
Reversed	1
HGVS	NC_000005.9:g.151208570G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000017451.29,