rs143849895

Orientation

plus

Stabilized

plus

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

Make rs143849895(A;A)

Make rs143849895(A;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

38566953

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs143849895
dbSNP (classic)	rs143849895
ClinGen	rs143849895
ebi	rs143849895
HLI	rs143849895
Exac	rs143849895
Gnomad	rs143849895
Varsome	rs143849895
LitVar	rs143849895
Map	rs143849895
PheGenI	rs143849895
Biobank	rs143849895
1000 genomes	rs143849895
hgdp	rs143849895
ensembl	rs143849895
geneview	rs143849895
scholar	rs143849895
google	rs143849895
pharmgkb	rs143849895
gwascentral	rs143849895
openSNP	rs143849895
23andMe	rs143849895
SNPshot	rs143849895
SNPdbe	rs143849895
MSV3d	rs143849895
GWAS Ctlg	rs143849895

Max Magnitude

0

ClinVar
Risk	rs143849895(A;A) rs143849895(C;C) rs143849895(T;T)
Alt	rs143849895(A;A) rs143849895(C;C) rs143849895(T;T)
Reference	Rs143849895(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.39057593G>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000034927.1,

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