rs118192169

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;TTCTACAACAAGAGCGAGGAT)	4	likely severe central core disease
(TTCTACAACAAGAGCGAGGAT;TTCTACAACAAGAGCGAGGAT)	0	common in clinvar

Make rs118192169(-;-)

Reference

GRCh38 38.1/141

Chromosome

19

Position

38580445

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs118192169
dbSNP (classic)	rs118192169
ClinGen	rs118192169
ebi	rs118192169
HLI	rs118192169
Exac	rs118192169
Gnomad	rs118192169
Varsome	rs118192169
LitVar	rs118192169
Map	rs118192169
PheGenI	rs118192169
Biobank	rs118192169
1000 genomes	rs118192169
hgdp	rs118192169
ensembl	rs118192169
geneview	rs118192169
scholar	rs118192169
google	rs118192169
pharmgkb	rs118192169
gwascentral	rs118192169
openSNP	rs118192169
23andMe	rs118192169
SNPshot	rs118192169
SNPdbe	rs118192169
MSV3d	rs118192169
GWAS Ctlg	rs118192169

Max Magnitude

4

OMIM	180901
Desc
Variant	0024
Related	also

ClinVar
Risk	rs118192169(-;-)
Alt	rs118192169(-;-)
Reference	Rs118192169(TTCTACAACAAGAGCGAGGAT;TTCTACAACAAGAGCGAGGAT)
Significance	Pathogenic
Disease	Central core disease
Variation	info
Gene	RYR1
CLNDBN	Central core disease
Reversed	0
HGVS	NC_000019.9:g.39071085_39071105del21
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000013858.24,

[PMID 12566385] Clinical and functional effects of a deletion in a COOH-terminal lumenal loop of the skeletal muscle ryanodine receptor.