rs200476515

Orientation

plus

Stabilized

plus

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

Make rs200476515(C;T)

Make rs200476515(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

6

Position

7566380

Gene

DSP

is a	snp
is	mentioned by
dbSNP	rs200476515
dbSNP (classic)	rs200476515
ClinGen	rs200476515
ebi	rs200476515
HLI	rs200476515
Exac	rs200476515
Gnomad	rs200476515
Varsome	rs200476515
LitVar	rs200476515
Map	rs200476515
PheGenI	rs200476515
Biobank	rs200476515
1000 genomes	rs200476515
hgdp	rs200476515
ensembl	rs200476515
geneview	rs200476515
scholar	rs200476515
google	rs200476515
pharmgkb	rs200476515
gwascentral	rs200476515
openSNP	rs200476515
23andMe	rs200476515
SNPshot	rs200476515
SNPdbe	rs200476515
MSV3d	rs200476515
GWAS Ctlg	rs200476515

Max Magnitude

0

ClinVar
Risk	rs200476515(T;T)
Alt	rs200476515(T;T)
Reference	Rs200476515(C;C)
Significance	Probable-non-pathogenic
Disease	not specified Arrhythmogenic right ventricular cardiomyopathy Cardiomyopathy dilated with woolly hair and keratoderma Epidermolysis bullosa Ectodermal dysplasia skin fragility syndrome Cardiomyopathy Skin fragility woolly hair syndrome
Variation	info
Gene	DSP
CLNDBN	not specified Arrhythmogenic right ventricular cardiomyopathy, type 8 Cardiomyopathy dilated with woolly hair and keratoderma Epidermolysis bullosa, lethal acantholytic Ectodermal dysplasia skin fragility syndrome Cardiomyopathy, ARVC Skin fragility woolly hair syndrome
Reversed	0
HGVS	NC_000006.11:g.7566613C>T
CLNSRC
CLNACC	RCV000038121.4, RCV000232142.1, RCV000263737.1, RCV000316563.1, RCV000322105.1, RCV000355871.1,