rs118192140

Orientation

plus

Stabilized

plus

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

Make rs118192140(C;T)

Make rs118192140(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

38573304

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs118192140
dbSNP (classic)	rs118192140
ClinGen	rs118192140
ebi	rs118192140
HLI	rs118192140
Exac	rs118192140
Gnomad	rs118192140
Varsome	rs118192140
LitVar	rs118192140
Map	rs118192140
PheGenI	rs118192140
Biobank	rs118192140
1000 genomes	rs118192140
hgdp	rs118192140
ensembl	rs118192140
geneview	rs118192140
scholar	rs118192140
google	rs118192140
pharmgkb	rs118192140
gwascentral	rs118192140
openSNP	rs118192140
23andMe	rs118192140
SNPshot	rs118192140
SNPdbe	rs118192140
MSV3d	rs118192140
GWAS Ctlg	rs118192140

Max Magnitude

0

ClinVar
Risk	rs118192140(T;T)
Alt	rs118192140(T;T)
Reference	Rs118192140(C;C)
Significance	Pathogenic
Disease	Central core disease not provided Minicore myopathy with external ophthalmoplegia
Variation	info
Gene	RYR1
CLNDBN	Central core disease not provided Minicore myopathy with external ophthalmoplegia
Reversed	0
HGVS	NC_000019.9:g.39063944C>T
CLNSRC	Baylor College of Medicine
CLNACC	RCV000056243.1, RCV000119498.1, RCV000191124.1,