rs111033559

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	6	Dilated cardiomyopathy (predicted)

Make rs111033559(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

118558946

Gene	CEP85L, PLN

is a	snp
is	mentioned by
dbSNP	rs111033559
dbSNP (classic)	rs111033559
ClinGen	rs111033559
ebi	rs111033559
HLI	rs111033559
Exac	rs111033559
Gnomad	rs111033559
Varsome	rs111033559
LitVar	rs111033559
Map	rs111033559
PheGenI	rs111033559
Biobank	rs111033559
1000 genomes	rs111033559
hgdp	rs111033559
ensembl	rs111033559
geneview	rs111033559
scholar	rs111033559
google	rs111033559
pharmgkb	rs111033559
gwascentral	rs111033559
openSNP	rs111033559
23andMe	rs111033559
SNPshot	rs111033559
SNPdbe	rs111033559
MSV3d	rs111033559
GWAS Ctlg	rs111033559

Max Magnitude

6

aka c.25C>T (p.Arg9Cys or R9C)

OMIM	172405
Desc
Variant	0001
Related	also

ClinVar
Risk	rs111033559(T;T)
Alt	rs111033559(T;T)
Reference	Rs111033559(C;C)
Significance	Pathogenic
Disease	Dilated cardiomyopathy 1P not provided Primary dilated cardiomyopathy
Variation	info
Gene	CEP85L PLN
CLNDBN	Dilated cardiomyopathy 1P not provided Primary dilated cardiomyopathy
Reversed	0
HGVS	NC_000006.11:g.118880109C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014606.26, RCV000183815.1, RCV000211844.1,