rs397514045

Orientation

plus

Stabilized

plus

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

Make rs397514045(-;-)

Make rs397514045(-;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

7585042

Gene

DSP

is a	snp
is	mentioned by
dbSNP	rs397514045
dbSNP (classic)	rs397514045
ClinGen	rs397514045
ebi	rs397514045
HLI	rs397514045
Exac	rs397514045
Gnomad	rs397514045
Varsome	rs397514045
LitVar	rs397514045
Map	rs397514045
PheGenI	rs397514045
Biobank	rs397514045
1000 genomes	rs397514045
hgdp	rs397514045
ensembl	rs397514045
geneview	rs397514045
scholar	rs397514045
google	rs397514045
pharmgkb	rs397514045
gwascentral	rs397514045
openSNP	rs397514045
23andMe	rs397514045
SNPshot	rs397514045
SNPdbe	rs397514045
MSV3d	rs397514045
GWAS Ctlg	rs397514045

Max Magnitude

0

ClinVar
Risk	rs397514045(-;-)
Alt	rs397514045(-;-)
Reference	Rs397514045(T;T)
Significance	Pathogenic
Disease	Cardiomyopathy dilated with woolly hair and keratoderma
Variation	info
Gene	DSP
CLNDBN	Cardiomyopathy dilated with woolly hair and keratoderma
Reversed	0
HGVS	NC_000006.11:g.7585275delT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000054449.25,