rs118192127

Orientation

plus

Stabilized

plus

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

Make rs118192127(C;C)

Make rs118192127(C;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

38527777

Gene	LOC107985290, RYR1

is a	snp
is	mentioned by
dbSNP	rs118192127
dbSNP (classic)	rs118192127
ClinGen	rs118192127
ebi	rs118192127
HLI	rs118192127
Exac	rs118192127
Gnomad	rs118192127
Varsome	rs118192127
LitVar	rs118192127
Map	rs118192127
PheGenI	rs118192127
Biobank	rs118192127
1000 genomes	rs118192127
hgdp	rs118192127
ensembl	rs118192127
geneview	rs118192127
scholar	rs118192127
google	rs118192127
pharmgkb	rs118192127
gwascentral	rs118192127
openSNP	rs118192127
23andMe	rs118192127
SNPshot	rs118192127
SNPdbe	rs118192127
MSV3d	rs118192127
GWAS Ctlg	rs118192127

Max Magnitude

0

ClinVar
Risk	rs118192127(C;C)
Alt	rs118192127(C;C)
Reference	Rs118192127(T;T)
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.39018417T>C
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000056205.1, RCV000119419.1,