rs116474260

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	1	Likely benign according to ClinVar

Make rs116474260(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

151822915

Gene

GLRA1

is a	snp
is	mentioned by
dbSNP	rs116474260
dbSNP (classic)	rs116474260
ClinGen	rs116474260
ebi	rs116474260
HLI	rs116474260
Exac	rs116474260
Gnomad	rs116474260
Varsome	rs116474260
LitVar	rs116474260
Map	rs116474260
PheGenI	rs116474260
Biobank	rs116474260
1000 genomes	rs116474260
hgdp	rs116474260
ensembl	rs116474260
geneview	rs116474260
scholar	rs116474260
google	rs116474260
pharmgkb	rs116474260
gwascentral	rs116474260
openSNP	rs116474260
23andMe	rs116474260
SNPshot	rs116474260
SNPdbe	rs116474260
MSV3d	rs116474260
GWAS Ctlg	rs116474260

GMAF

0.00551

Max Magnitude

1

ClinVar
Risk	rs116474260(T;T)
Alt	rs116474260(T;T)
Reference	Rs116474260(C;C)
Significance	Pathogenic
Disease	Hyperekplexia hereditary Hyperekplexia not specified
Variation	info
Gene	GLRA1
CLNDBN	Hyperekplexia hereditary Hyperekplexia not specified
Reversed	0
HGVS	NC_000005.9:g.151202476C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000031885.2, RCV000329328.1, RCV000454994.1,