rs118192171

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(AC;TT)	5	likely severe central core disease
(TT;TT)	0	common in clinvar

Make rs118192171(AC;AC)

Reference

GRCh38 38.1/141

Chromosome

19

Position

38585057

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs118192171
dbSNP (classic)	rs118192171
ClinGen	rs118192171
ebi	rs118192171
HLI	rs118192171
Exac	rs118192171
Gnomad	rs118192171
Varsome	rs118192171
LitVar	rs118192171
Map	rs118192171
PheGenI	rs118192171
Biobank	rs118192171
1000 genomes	rs118192171
hgdp	rs118192171
ensembl	rs118192171
geneview	rs118192171
scholar	rs118192171
google	rs118192171
pharmgkb	rs118192171
gwascentral	rs118192171
openSNP	rs118192171
23andMe	rs118192171
SNPshot	rs118192171
SNPdbe	rs118192171
MSV3d	rs118192171
GWAS Ctlg	rs118192171

Max Magnitude

5

OMIM	180901
Desc
Variant	0033
Related	also

ClinVar
Risk	rs118192171(AC;AC)
Alt	rs118192171(AC;AC)
Reference	Rs118192171(TT;TT)
Significance	Pathogenic
Disease	Neuromuscular disease Central core disease not provided
Variation	info
Gene	RYR1
CLNDBN	Neuromuscular disease, congenital, with uniform type 1 fiber Central core disease not provided
Reversed	0
HGVS	NC_000019.9:g.39075697_39075698delTTinsAC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000013868.17, RCV000013869.23, RCV000119559.1,

[PMID 16621918] Central core disease is due to RYR1 mutations in more than 90% of patients.

[PMID 17538032] Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation.