rs193922771

plus

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

Make rs193922771(-;ATCA)

Make rs193922771(ATCA;ATCA)

Reference

GRCh38 38.1/141

Chromosome

19

Position

38455702

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs193922771
dbSNP (classic)	rs193922771
ClinGen	rs193922771
ebi	rs193922771
HLI	rs193922771
Exac	rs193922771
Gnomad	rs193922771
Varsome	rs193922771
LitVar	rs193922771
Map	rs193922771
PheGenI	rs193922771
Biobank	rs193922771
1000 genomes	rs193922771
hgdp	rs193922771
ensembl	rs193922771
geneview	rs193922771
scholar	rs193922771
google	rs193922771
pharmgkb	rs193922771
gwascentral	rs193922771
openSNP	rs193922771
23andMe	rs193922771
SNPshot	rs193922771
SNPdbe	rs193922771
MSV3d	rs193922771
GWAS Ctlg	rs193922771

Max Magnitude

0

ClinVar
Risk	rs193922771(AATC;AATC)
Alt	rs193922771(AATC;AATC)
Reference	Rs193922771(-;-)
Significance	Pathogenic
Disease	Minicore myopathy with external ophthalmoplegia not provided
Variation	info
Gene	RYR1
CLNDBN	Minicore myopathy with external ophthalmoplegia not provided
Reversed	0
HGVS	NC_000019.9:g.38946339_38946342dupATCA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000013867.24, RCV000119584.1,

[PMID 18253926] Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.