rs121918411

Orientation

minus

Stabilized

minus

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

Make rs121918411(C;C)

Make rs121918411(C;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

151851420

Gene

GLRA1

is a	snp
is	mentioned by
dbSNP	rs121918411
dbSNP (classic)	rs121918411
ClinGen	rs121918411
ebi	rs121918411
HLI	rs121918411
Exac	rs121918411
Gnomad	rs121918411
Varsome	rs121918411
LitVar	rs121918411
Map	rs121918411
PheGenI	rs121918411
Biobank	rs121918411
1000 genomes	rs121918411
hgdp	rs121918411
ensembl	rs121918411
geneview	rs121918411
scholar	rs121918411
google	rs121918411
pharmgkb	rs121918411
gwascentral	rs121918411
openSNP	rs121918411
23andMe	rs121918411
SNPshot	rs121918411
SNPdbe	rs121918411
MSV3d	rs121918411
GWAS Ctlg	rs121918411

Max Magnitude

0

OMIM	138491
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121918411(C;C) rs121918411(T;T)
Alt	rs121918411(C;C) rs121918411(T;T)
Reference	Rs121918411(G;G)
Significance	Pathogenic
Disease	Hyperekplexia hereditary
Variation	info
Gene	GLRA1
CLNDBN	Hyperekplexia hereditary
Reversed	1
HGVS	NC_000005.9:g.151230981C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017442.29,