rs193922856

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(CAGCAGTGACGCGCGCTGGG;CAGCAGTGACGCGCGCTGGG)	0	common in clinvar
(CTGGGCAGCAGTGACGCGCG;CTGGGCAGCAGTGACGCGCG)	0	common in clinvar

Make rs193922856(-;-)

Make rs193922856(-;CAGCAGTGACGCGCGCTGGG)

Reference

GRCh38 38.1/141

Chromosome

19

Position

38565347

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs193922856
dbSNP (classic)	rs193922856
ClinGen	rs193922856
ebi	rs193922856
HLI	rs193922856
Exac	rs193922856
Gnomad	rs193922856
Varsome	rs193922856
LitVar	rs193922856
Map	rs193922856
PheGenI	rs193922856
Biobank	rs193922856
1000 genomes	rs193922856
hgdp	rs193922856
ensembl	rs193922856
geneview	rs193922856
scholar	rs193922856
google	rs193922856
pharmgkb	rs193922856
gwascentral	rs193922856
openSNP	rs193922856
23andMe	rs193922856
SNPshot	rs193922856
SNPdbe	rs193922856
MSV3d	rs193922856
GWAS Ctlg	rs193922856

Max Magnitude

0

ClinVar
Risk	rs193922856(-;-)
Alt	rs193922856(-;-)
Reference	Rs193922856(CTGGGCAGCAGTGACGCGCG;CTGGGCAGCAGTGACGCGCG)
Significance	Pathogenic
Disease	Neuromuscular disease not provided
Variation	info
Gene	RYR1
CLNDBN	Neuromuscular disease, congenital, with uniform type 1 fiber not provided
Reversed	0
HGVS	NC_000019.9:g.39055987_39056006del20
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000013870.24, RCV000119472.1,

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