rs397516912

Orientation

plus

Stabilized

plus

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

Make rs397516912(A;C)

Make rs397516912(C;C)

Reference

GRCh38.p2 38.2/144

Chromosome

6

Position

7567421

Gene

DSP

is a	snp
is	mentioned by
dbSNP	rs397516912
dbSNP (classic)	rs397516912
ClinGen	rs397516912
ebi	rs397516912
HLI	rs397516912
Exac	rs397516912
Gnomad	rs397516912
Varsome	rs397516912
LitVar	rs397516912
Map	rs397516912
PheGenI	rs397516912
Biobank	rs397516912
1000 genomes	rs397516912
hgdp	rs397516912
ensembl	rs397516912
geneview	rs397516912
scholar	rs397516912
google	rs397516912
pharmgkb	rs397516912
gwascentral	rs397516912
openSNP	rs397516912
23andMe	rs397516912
SNPshot	rs397516912
SNPdbe	rs397516912
MSV3d	rs397516912
GWAS Ctlg	rs397516912

Max Magnitude

0

ClinVar
Risk	rs397516912(C;C)
Alt	rs397516912(C;C)
Reference	Rs397516912(A;A)
Significance	Pathogenic
Disease	not specified Arrhythmogenic right ventricular cardiomyopathy Cardiomyopathy dilated with woolly hair and keratoderma
Variation	info
Gene	DSP
CLNDBN	not specified Arrhythmogenic right ventricular cardiomyopathy, type 8 Cardiomyopathy dilated with woolly hair and keratoderma
Reversed	0
HGVS	NC_000006.11:g.7567654A>C
CLNSRC
CLNACC	RCV000037984.2, RCV000464608.1,