rs121918415

Orientation

minus

Stabilized

minus

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

Make rs121918415(A;A)

Make rs121918415(A;C)

Reference

GRCh38 38.1/141

Chromosome

5

Position

151855047

Gene

GLRA1

is a	snp
is	mentioned by
dbSNP	rs121918415
dbSNP (classic)	rs121918415
ClinGen	rs121918415
ebi	rs121918415
HLI	rs121918415
Exac	rs121918415
Gnomad	rs121918415
Varsome	rs121918415
LitVar	rs121918415
Map	rs121918415
PheGenI	rs121918415
Biobank	rs121918415
1000 genomes	rs121918415
hgdp	rs121918415
ensembl	rs121918415
geneview	rs121918415
scholar	rs121918415
google	rs121918415
pharmgkb	rs121918415
gwascentral	rs121918415
openSNP	rs121918415
23andMe	rs121918415
SNPshot	rs121918415
SNPdbe	rs121918415
MSV3d	rs121918415
GWAS Ctlg	rs121918415

Max Magnitude

0

OMIM	138491
Desc
Variant	0010
Related	also

ClinVar
Risk	rs121918415(A;A) rs121918415(T;T)
Alt	rs121918415(A;A) rs121918415(T;T)
Reference	Rs121918415(C;C)
Significance	Pathogenic
Disease	Hyperekplexia hereditary
Variation	info
Gene	GLRA1
CLNDBN	Hyperekplexia hereditary
Reversed	1
HGVS	NC_000005.9:g.151234608G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000017447.29,