rs111364670

Orientation

plus

Stabilized

plus

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

Make rs111364670(A;A)

Make rs111364670(A;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

38510566

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs111364670
dbSNP (classic)	rs111364670
ClinGen	rs111364670
ebi	rs111364670
HLI	rs111364670
Exac	rs111364670
Gnomad	rs111364670
Varsome	rs111364670
LitVar	rs111364670
Map	rs111364670
PheGenI	rs111364670
Biobank	rs111364670
1000 genomes	rs111364670
hgdp	rs111364670
ensembl	rs111364670
geneview	rs111364670
scholar	rs111364670
google	rs111364670
pharmgkb	rs111364670
gwascentral	rs111364670
openSNP	rs111364670
23andMe	rs111364670
SNPshot	rs111364670
SNPdbe	rs111364670
MSV3d	rs111364670
GWAS Ctlg	rs111364670

Max Magnitude

0

ClinVar
Risk	rs111364670(A;A) rs111364670(T;T)
Alt	rs111364670(A;A) rs111364670(T;T)
Reference	Rs111364670(G;G)
Significance	Pathogenic
Disease	Congenital myopathy with fiber type disproportion
Variation	info
Gene	RYR1
CLNDBN	Congenital myopathy with fiber type disproportion
Reversed	0
HGVS	NC_000019.9:g.39001206G>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000034931.1,

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