rs118192139

Orientation

plus

Stabilized

plus

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

Make rs118192139(A;C)

Make rs118192139(C;C)

Reference

GRCh38 38.1/141

Chromosome

19

Position

38572224

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs118192139
dbSNP (classic)	rs118192139
ClinGen	rs118192139
ebi	rs118192139
HLI	rs118192139
Exac	rs118192139
Gnomad	rs118192139
Varsome	rs118192139
LitVar	rs118192139
Map	rs118192139
PheGenI	rs118192139
Biobank	rs118192139
1000 genomes	rs118192139
hgdp	rs118192139
ensembl	rs118192139
geneview	rs118192139
scholar	rs118192139
google	rs118192139
pharmgkb	rs118192139
gwascentral	rs118192139
openSNP	rs118192139
23andMe	rs118192139
SNPshot	rs118192139
SNPdbe	rs118192139
MSV3d	rs118192139
GWAS Ctlg	rs118192139

Max Magnitude

0

ClinVar
Risk	rs118192139(C;C)
Alt	rs118192139(C;C)
Reference	Rs118192139(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.39062864A>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000056198.1, RCV000119494.1,