rs121918408

Orientation

minus

Stabilized

minus

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

Make rs121918408(G;T)

Make rs121918408(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

151851406

Gene

GLRA1

is a	snp
is	mentioned by
dbSNP	rs121918408
dbSNP (classic)	rs121918408
ClinGen	rs121918408
ebi	rs121918408
HLI	rs121918408
Exac	rs121918408
Gnomad	rs121918408
Varsome	rs121918408
LitVar	rs121918408
Map	rs121918408
PheGenI	rs121918408
Biobank	rs121918408
1000 genomes	rs121918408
hgdp	rs121918408
ensembl	rs121918408
geneview	rs121918408
scholar	rs121918408
google	rs121918408
pharmgkb	rs121918408
gwascentral	rs121918408
openSNP	rs121918408
23andMe	rs121918408
SNPshot	rs121918408
SNPdbe	rs121918408
MSV3d	rs121918408
GWAS Ctlg	rs121918408

Max Magnitude

0

OMIM	138491
Desc
Variant	0001
Related	also

OMIM	138491
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121918408(A;A) rs121918408(T;T)
Alt	rs121918408(A;A) rs121918408(T;T)
Reference	Rs121918408(G;G)
Significance	Pathogenic
Disease	Hyperekplexia hereditary
Variation	info
Gene	GLRA1
CLNDBN	Hyperekplexia hereditary
Reversed	1
HGVS	NC_000005.9:g.151230967C>A; NC_000005.9:g.151230967C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017438.28, RCV000017439.27,