rs118192159

Orientation

plus

Stabilized

plus

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

Make rs118192159(C;G)

Make rs118192159(G;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

38585948

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs118192159
dbSNP (classic)	rs118192159
ClinGen	rs118192159
ebi	rs118192159
HLI	rs118192159
Exac	rs118192159
Gnomad	rs118192159
Varsome	rs118192159
LitVar	rs118192159
Map	rs118192159
PheGenI	rs118192159
Biobank	rs118192159
1000 genomes	rs118192159
hgdp	rs118192159
ensembl	rs118192159
geneview	rs118192159
scholar	rs118192159
google	rs118192159
pharmgkb	rs118192159
gwascentral	rs118192159
openSNP	rs118192159
23andMe	rs118192159
SNPshot	rs118192159
SNPdbe	rs118192159
MSV3d	rs118192159
GWAS Ctlg	rs118192159

Max Magnitude

0

ClinVar
Risk	rs118192159(G;G) rs118192159(T;T)
Alt	rs118192159(G;G) rs118192159(T;T)
Reference	Rs118192159(C;C)
Significance	Pathogenic
Disease	Central core disease not provided not specified
Variation	info
Gene	RYR1
CLNDBN	Central core disease not provided not specified
Reversed	0
HGVS	NC_000019.9:g.39076588C>G; NC_000019.9:g.39076588C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000056202.1, RCV000119564.1, RCV000455586.1,