rs193922879

plus

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

Make rs193922879(A;A)

Make rs193922879(A;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

38580382

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs193922879
dbSNP (classic)	rs193922879
ClinGen	rs193922879
ebi	rs193922879
HLI	rs193922879
Exac	rs193922879
Gnomad	rs193922879
Varsome	rs193922879
LitVar	rs193922879
Map	rs193922879
PheGenI	rs193922879
Biobank	rs193922879
1000 genomes	rs193922879
hgdp	rs193922879
ensembl	rs193922879
geneview	rs193922879
scholar	rs193922879
google	rs193922879
pharmgkb	rs193922879
gwascentral	rs193922879
openSNP	rs193922879
23andMe	rs193922879
SNPshot	rs193922879
SNPdbe	rs193922879
MSV3d	rs193922879
GWAS Ctlg	rs193922879

Max Magnitude

0

ClinVar
Risk	rs193922879(A;A)
Alt	rs193922879(A;A)
Reference	Rs193922879(G;G)
Significance	Pathogenic
Disease	Minicore myopathy with external ophthalmoplegia not provided Myopathy Central core disease
Variation	info
Gene	RYR1
CLNDBN	Minicore myopathy with external ophthalmoplegia not provided Myopathy, congenital with cores Central core disease
Reversed	0
HGVS	NC_000019.9:g.39071022G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000022758.24, RCV000119524.3, RCV000148830.1, RCV000226744.1,

[PMID 18253926] Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.