rs148894066

Orientation

plus

Stabilized

plus

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

Make rs148894066(C;T)

Make rs148894066(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

6

Position

7579697

Gene

DSP

is a	snp
is	mentioned by
dbSNP	rs148894066
dbSNP (classic)	rs148894066
ClinGen	rs148894066
ebi	rs148894066
HLI	rs148894066
Exac	rs148894066
Gnomad	rs148894066
Varsome	rs148894066
LitVar	rs148894066
Map	rs148894066
PheGenI	rs148894066
Biobank	rs148894066
1000 genomes	rs148894066
hgdp	rs148894066
ensembl	rs148894066
geneview	rs148894066
scholar	rs148894066
google	rs148894066
pharmgkb	rs148894066
gwascentral	rs148894066
openSNP	rs148894066
23andMe	rs148894066
SNPshot	rs148894066
SNPdbe	rs148894066
MSV3d	rs148894066
GWAS Ctlg	rs148894066

Max Magnitude

0

ClinVar
Risk	rs148894066(A;A) rs148894066(T;T)
Alt	rs148894066(A;A) rs148894066(T;T)
Reference	Rs148894066(C;C)
Significance	Probable-Pathogenic
Disease	Primary dilated cardiomyopathy not specified Cardiomyopathy Ectodermal dysplasia skin fragility syndrome Skin fragility woolly hair syndrome Epidermolysis bullosa Arrhythmogenic right ventricular cardiomyopathy Cardiomyopathy dilated with woolly hair and keratoderma
Variation	info
Gene	DSP
CLNDBN	Primary dilated cardiomyopathy not specified Cardiomyopathy, ARVC Ectodermal dysplasia skin fragility syndrome Skin fragility woolly hair syndrome Epidermolysis bullosa, lethal acantholytic Arrhythmogenic right ventricular cardiomyopathy, type 8 Cardiomyopathy dilated with woolly hair and keratoderma
Reversed	0
HGVS	NC_000006.11:g.7579930C>A; NC_000006.11:g.7579930C>T
CLNSRC
CLNACC	RCV000218217.1, RCV000155792.2, RCV000265470.1, RCV000304208.1, RCV000310488.1, RCV000358299.1, RCV000463442.1,