rs118192143

Orientation

plus

Stabilized

plus

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

Make rs118192143(C;T)

Make rs118192143(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

38580395

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs118192143
dbSNP (classic)	rs118192143
ClinGen	rs118192143
ebi	rs118192143
HLI	rs118192143
Exac	rs118192143
Gnomad	rs118192143
Varsome	rs118192143
LitVar	rs118192143
Map	rs118192143
PheGenI	rs118192143
Biobank	rs118192143
1000 genomes	rs118192143
hgdp	rs118192143
ensembl	rs118192143
geneview	rs118192143
scholar	rs118192143
google	rs118192143
pharmgkb	rs118192143
gwascentral	rs118192143
openSNP	rs118192143
23andMe	rs118192143
SNPshot	rs118192143
SNPdbe	rs118192143
MSV3d	rs118192143
GWAS Ctlg	rs118192143

Max Magnitude

0

ClinVar
Risk	rs118192143(G;G) rs118192143(T;T)
Alt	rs118192143(G;G) rs118192143(T;T)
Reference	Rs118192143(C;C)
Significance	Pathogenic
Disease	Central core disease not provided
Variation	info
Gene	RYR1
CLNDBN	Central core disease not provided
Reversed	0
HGVS	NC_000019.9:g.39071035C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000056172.1, RCV000119525.1,