rs121918410

Orientation

minus

Stabilized

minus

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

Make rs121918410(A;G)

Make rs121918410(G;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

151829060

Gene

GLRA1

is a	snp
is	mentioned by
dbSNP	rs121918410
dbSNP (classic)	rs121918410
ClinGen	rs121918410
ebi	rs121918410
HLI	rs121918410
Exac	rs121918410
Gnomad	rs121918410
Varsome	rs121918410
LitVar	rs121918410
Map	rs121918410
PheGenI	rs121918410
Biobank	rs121918410
1000 genomes	rs121918410
hgdp	rs121918410
ensembl	rs121918410
geneview	rs121918410
scholar	rs121918410
google	rs121918410
pharmgkb	rs121918410
gwascentral	rs121918410
openSNP	rs121918410
23andMe	rs121918410
SNPshot	rs121918410
SNPdbe	rs121918410
MSV3d	rs121918410
GWAS Ctlg	rs121918410

Max Magnitude

0

OMIM	138491
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121918410(C;C) rs121918410(G;G)
Alt	rs121918410(C;C) rs121918410(G;G)
Reference	Rs121918410(A;A)
Significance	Pathogenic
Disease	Hyperekplexia hereditary
Variation	info
Gene	GLRA1
CLNDBN	Hyperekplexia hereditary
Reversed	1
HGVS	NC_000005.9:g.151208621T>C; NC_000005.9:g.151208621T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017441.25, RCV000031892.2,