rs199547699

Orientation

plus

Stabilized

plus

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

Make rs199547699(A;A)

Make rs199547699(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

151859984

Gene

GLRA1

is a	snp
is	mentioned by
dbSNP	rs199547699
dbSNP (classic)	rs199547699
ClinGen	rs199547699
ebi	rs199547699
HLI	rs199547699
Exac	rs199547699
Gnomad	rs199547699
Varsome	rs199547699
LitVar	rs199547699
Map	rs199547699
PheGenI	rs199547699
Biobank	rs199547699
1000 genomes	rs199547699
hgdp	rs199547699
ensembl	rs199547699
geneview	rs199547699
scholar	rs199547699
google	rs199547699
pharmgkb	rs199547699
gwascentral	rs199547699
openSNP	rs199547699
23andMe	rs199547699
SNPshot	rs199547699
SNPdbe	rs199547699
MSV3d	rs199547699
GWAS Ctlg	rs199547699

Max Magnitude

0

ClinVar
Risk	rs199547699(A;A) rs199547699(T;T)
Alt	rs199547699(A;A) rs199547699(T;T)
Reference	Rs199547699(G;G)
Significance	Probable-Pathogenic
Disease	Hyperekplexia hereditary
Variation	info
Gene	GLRA1
CLNDBN	Hyperekplexia hereditary
Reversed	0
HGVS	NC_000005.9:g.151239545G>A
CLNSRC
CLNACC	RCV000490459.1,