rs118192117

Orientation

plus

Stabilized

plus

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

Make rs118192117(C;C)

Make rs118192117(C;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

38451846

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs118192117
dbSNP (classic)	rs118192117
ClinGen	rs118192117
ebi	rs118192117
HLI	rs118192117
Exac	rs118192117
Gnomad	rs118192117
Varsome	rs118192117
LitVar	rs118192117
Map	rs118192117
PheGenI	rs118192117
Biobank	rs118192117
1000 genomes	rs118192117
hgdp	rs118192117
ensembl	rs118192117
geneview	rs118192117
scholar	rs118192117
google	rs118192117
pharmgkb	rs118192117
gwascentral	rs118192117
openSNP	rs118192117
23andMe	rs118192117
SNPshot	rs118192117
SNPdbe	rs118192117
MSV3d	rs118192117
GWAS Ctlg	rs118192117

Max Magnitude

0

ClinVar
Risk	rs118192117(C;C)
Alt	rs118192117(C;C)
Reference	Rs118192117(T;T)
Significance	Pathogenic
Disease	Congenital myopathy with fiber type disproportion Central core disease not provided
Variation	info
Gene	RYR1
CLNDBN	Congenital myopathy with fiber type disproportion Central core disease not provided
Reversed	0
HGVS	NC_000019.9:g.38942486T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000034926.1, RCV000056214.1, RCV000119451.1,

[PMID 17033962] Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies.

[PMID 17483490] Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.

[PMID 20583297] Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.