rs118192148

Orientation

plus

Stabilized

plus

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

Make rs118192148(G;T)

Make rs118192148(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

38584986

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs118192148
dbSNP (classic)	rs118192148
ClinGen	rs118192148
ebi	rs118192148
HLI	rs118192148
Exac	rs118192148
Gnomad	rs118192148
Varsome	rs118192148
LitVar	rs118192148
Map	rs118192148
PheGenI	rs118192148
Biobank	rs118192148
1000 genomes	rs118192148
hgdp	rs118192148
ensembl	rs118192148
geneview	rs118192148
scholar	rs118192148
google	rs118192148
pharmgkb	rs118192148
gwascentral	rs118192148
openSNP	rs118192148
23andMe	rs118192148
SNPshot	rs118192148
SNPdbe	rs118192148
MSV3d	rs118192148
GWAS Ctlg	rs118192148

Max Magnitude

0

ClinVar
Risk	rs118192148(T;T)
Alt	rs118192148(T;T)
Reference	Rs118192148(G;G)
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.39075626G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000056194.1, RCV000119551.1,