rs140474226

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	6.1	Several cardiac conditions reported/predicted

Make rs140474226(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

6

Position

7580370

Gene

DSP

is a	snp
is	mentioned by
dbSNP	rs140474226
dbSNP (classic)	rs140474226
ClinGen	rs140474226
ebi	rs140474226
HLI	rs140474226
Exac	rs140474226
Gnomad	rs140474226
Varsome	rs140474226
LitVar	rs140474226
Map	rs140474226
PheGenI	rs140474226
Biobank	rs140474226
1000 genomes	rs140474226
hgdp	rs140474226
ensembl	rs140474226
geneview	rs140474226
scholar	rs140474226
google	rs140474226
pharmgkb	rs140474226
gwascentral	rs140474226
openSNP	rs140474226
23andMe	rs140474226
SNPshot	rs140474226
SNPdbe	rs140474226
MSV3d	rs140474226
GWAS Ctlg	rs140474226

Max Magnitude

6.1

aka c.4180C>T (p.Gln1394Ter)

Reported in ClinVar as pathogenic for dilated cardiomyopathy and likely pathogenic for arrhythmogenic right ventricular dysplasia; also reported in a sudden cardiac death patient [PMID 31727422]

ClinVar
Risk	rs140474226(T;T)
Alt	rs140474226(T;T)
Reference	Rs140474226(C;C)
Significance	Probable-Pathogenic
Disease	Arrhythmogenic right ventricular cardiomyopathy
Variation	info
Gene	DSP
CLNDBN	Arrhythmogenic right ventricular cardiomyopathy
Reversed	0
HGVS	NC_000006.11:g.7580603C>T
CLNSRC
CLNACC	RCV000210378.2,