rs794728137

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(-;G)	6.7	Arrhythmogenic right ventricular dysplasia

Make rs794728137(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

6

Position

7565509

Gene

DSP

is a	snp
is	mentioned by
dbSNP	rs794728137
dbSNP (classic)	rs794728137
ClinGen	rs794728137
ebi	rs794728137
HLI	rs794728137
Exac	rs794728137
Gnomad	rs794728137
Varsome	rs794728137
LitVar	rs794728137
Map	rs794728137
PheGenI	rs794728137
Biobank	rs794728137
1000 genomes	rs794728137
hgdp	rs794728137
ensembl	rs794728137
geneview	rs794728137
scholar	rs794728137
google	rs794728137
pharmgkb	rs794728137
gwascentral	rs794728137
openSNP	rs794728137
23andMe	rs794728137
SNPshot	rs794728137
SNPdbe	rs794728137
MSV3d	rs794728137
GWAS Ctlg	rs794728137

Max Magnitude

6.7

ClinVar
Risk	rs794728137(G;G)
Alt	rs794728137(G;G)
Reference	Rs794728137(-;-)
Significance	Pathogenic
Disease	not provided Arrhythmogenic right ventricular cardiomyopathy Cardiomyopathy dilated with woolly hair and keratoderma Cardiomyopathy Epidermolysis bullosa Keratosis palmoplantaris striata II Skin fragility woolly hair syndrome
Variation	info
Gene	DSP
CLNDBN	not provided Arrhythmogenic right ventricular cardiomyopathy, type 8 Cardiomyopathy dilated with woolly hair and keratoderma Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis Epidermolysis bullosa, lethal acantholytic Keratosis palmoplantaris striata II Skin fragility woolly hair syndrome
Reversed	0
HGVS	NC_000006.11:g.7565742dupG
CLNSRC
CLNACC	RCV000181358.2, RCV000477886.1,