rs121918414

Orientation

minus

Stabilized

minus

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

Make rs121918414(A;G)

Make rs121918414(G;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

151856337

Gene

GLRA1

is a	snp
is	mentioned by
dbSNP	rs121918414
dbSNP (classic)	rs121918414
ClinGen	rs121918414
ebi	rs121918414
HLI	rs121918414
Exac	rs121918414
Gnomad	rs121918414
Varsome	rs121918414
LitVar	rs121918414
Map	rs121918414
PheGenI	rs121918414
Biobank	rs121918414
1000 genomes	rs121918414
hgdp	rs121918414
ensembl	rs121918414
geneview	rs121918414
scholar	rs121918414
google	rs121918414
pharmgkb	rs121918414
gwascentral	rs121918414
openSNP	rs121918414
23andMe	rs121918414
SNPshot	rs121918414
SNPdbe	rs121918414
MSV3d	rs121918414
GWAS Ctlg	rs121918414

Max Magnitude

0

OMIM	138491
Desc
Variant	0009
Related	also

ClinVar
Risk	rs121918414(G;G)
Alt	rs121918414(G;G)
Reference	Rs121918414(A;A)
Significance	Pathogenic
Disease	Hyperekplexia hereditary
Variation	info
Gene	GLRA1
CLNDBN	Hyperekplexia hereditary
Reversed	1
HGVS	NC_000005.9:g.151235898T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000017446.25, RCV000031895.1,