rs118192141

Orientation

plus

Stabilized

plus

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

Make rs118192141(A;C)

Make rs118192141(C;C)

Reference

GRCh38 38.1/141

Chromosome

19

Position

38575959

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs118192141
dbSNP (classic)	rs118192141
ClinGen	rs118192141
ebi	rs118192141
HLI	rs118192141
Exac	rs118192141
Gnomad	rs118192141
Varsome	rs118192141
LitVar	rs118192141
Map	rs118192141
PheGenI	rs118192141
Biobank	rs118192141
1000 genomes	rs118192141
hgdp	rs118192141
ensembl	rs118192141
geneview	rs118192141
scholar	rs118192141
google	rs118192141
pharmgkb	rs118192141
gwascentral	rs118192141
openSNP	rs118192141
23andMe	rs118192141
SNPshot	rs118192141
SNPdbe	rs118192141
MSV3d	rs118192141
GWAS Ctlg	rs118192141

Max Magnitude

0

ClinVar
Risk	rs118192141(C;C)
Alt	rs118192141(C;C)
Reference	Rs118192141(A;A)
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.39066599A>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000056204.1, RCV000119499.1,