rs118192123

Orientation

plus

Stabilized

plus

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

Make rs118192123(C;C)

Make rs118192123(C;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

38500640

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs118192123
dbSNP (classic)	rs118192123
ClinGen	rs118192123
ebi	rs118192123
HLI	rs118192123
Exac	rs118192123
Gnomad	rs118192123
Varsome	rs118192123
LitVar	rs118192123
Map	rs118192123
PheGenI	rs118192123
Biobank	rs118192123
1000 genomes	rs118192123
hgdp	rs118192123
ensembl	rs118192123
geneview	rs118192123
scholar	rs118192123
google	rs118192123
pharmgkb	rs118192123
gwascentral	rs118192123
openSNP	rs118192123
23andMe	rs118192123
SNPshot	rs118192123
SNPdbe	rs118192123
MSV3d	rs118192123
GWAS Ctlg	rs118192123

Max Magnitude

0

ClinVar
Risk	rs118192123(C;C)
Alt	rs118192123(C;C)
Reference	Rs118192123(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.38991280T>C
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000056200.1, RCV000119708.1,