rs118192174

plus

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

Make rs118192174(A;A)

Make rs118192174(A;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

38499961

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs118192174
dbSNP (classic)	rs118192174
ClinGen	rs118192174
ebi	rs118192174
HLI	rs118192174
Exac	rs118192174
Gnomad	rs118192174
Varsome	rs118192174
LitVar	rs118192174
Map	rs118192174
PheGenI	rs118192174
Biobank	rs118192174
1000 genomes	rs118192174
hgdp	rs118192174
ensembl	rs118192174
geneview	rs118192174
scholar	rs118192174
google	rs118192174
pharmgkb	rs118192174
gwascentral	rs118192174
openSNP	rs118192174
23andMe	rs118192174
SNPshot	rs118192174
SNPdbe	rs118192174
MSV3d	rs118192174
GWAS Ctlg	rs118192174

Max Magnitude

0

OMIM	180901
Desc
Variant	0027
Related	also

ClinVar
Risk	rs118192174(A;A)
Alt	rs118192174(A;A)
Reference	Rs118192174(T;T)
Significance	Pathogenic
Disease	Minicore myopathy with external ophthalmoplegia not provided EMG abnormality Lower limb amyotrophy Talipes equinovarus
Variation	info
Gene	RYR1
CLNDBN	Minicore myopathy with external ophthalmoplegia not provided EMG abnormality Lower limb amyotrophy Talipes equinovarus
Reversed	0
HGVS	NC_000019.9:g.38990601T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013861.25, RCV000119694.1, RCV000415169.1,

[PMID 7299413] Familial multicore disease with focal loss of cross-striations and ophthalmoplegia.

[PMID 16380615] Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene.

[PMID 18253 ] Studies of the actions of drugs affecting the central nervous system and of the relationship between nerve terminal ATPase activities and neurotransmitter release [proceedings].

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

[PMID 17365175] Functional effects of mutations identified in patients with multiminicore disease.

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