rs193922837

plus

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

Make rs193922837(C;G)

Make rs193922837(G;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

38523211

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs193922837
dbSNP (classic)	rs193922837
ClinGen	rs193922837
ebi	rs193922837
HLI	rs193922837
Exac	rs193922837
Gnomad	rs193922837
Varsome	rs193922837
LitVar	rs193922837
Map	rs193922837
PheGenI	rs193922837
Biobank	rs193922837
1000 genomes	rs193922837
hgdp	rs193922837
ensembl	rs193922837
geneview	rs193922837
scholar	rs193922837
google	rs193922837
pharmgkb	rs193922837
gwascentral	rs193922837
openSNP	rs193922837
23andMe	rs193922837
SNPshot	rs193922837
SNPdbe	rs193922837
MSV3d	rs193922837
GWAS Ctlg	rs193922837

Max Magnitude

0

ClinVar
Risk	rs193922837(G;G)
Alt	rs193922837(G;G)
Reference	Rs193922837(C;C)
Significance	Pathogenic
Disease	not provided Central core disease
Variation	info
Gene	RYR1
CLNDBN	not provided Central core disease
Reversed	0
HGVS	NC_000019.9:g.39013851C>G
CLNSRC	ClinVar
CLNACC	RCV000119410.1, RCV000366331.1,

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