rs121912992

Orientation

plus

Stabilized

plus

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

Make rs121912992(C;G)

Make rs121912992(G;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

7565478

Gene

DSP

is a	snp
is	mentioned by
dbSNP	rs121912992
dbSNP (classic)	rs121912992
ClinGen	rs121912992
ebi	rs121912992
HLI	rs121912992
Exac	rs121912992
Gnomad	rs121912992
Varsome	rs121912992
LitVar	rs121912992
Map	rs121912992
PheGenI	rs121912992
Biobank	rs121912992
1000 genomes	rs121912992
hgdp	rs121912992
ensembl	rs121912992
geneview	rs121912992
scholar	rs121912992
google	rs121912992
pharmgkb	rs121912992
gwascentral	rs121912992
openSNP	rs121912992
23andMe	rs121912992
SNPshot	rs121912992
SNPdbe	rs121912992
MSV3d	rs121912992
GWAS Ctlg	rs121912992

GMAF

0.0004591

Max Magnitude

0

OMIM	125647
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121912992(G;G) rs121912992(T;T)
Alt	rs121912992(G;G) rs121912992(T;T)
Reference	Rs121912992(C;C)
Significance	Pathogenic
Disease	Arrhythmogenic right ventricular cardiomyopathy not specified Cardiomyopathy dilated with woolly hair and keratoderma
Variation	info
Gene	DSP
CLNDBN	Arrhythmogenic right ventricular cardiomyopathy, type 8 not specified Cardiomyopathy dilated with woolly hair and keratoderma
Reversed	0
HGVS	NC_000006.11:g.7565711C>G; NC_000006.11:g.7565711C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018332.29, RCV000168637.2, RCV000460785.1,