rs397516698

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;G)	6.5	Myofibrillar Myopathy
(G;G)	0	common in clinvar
(G;T)	6.5	Myofibrillar Myopathy

Make rs397516698(A;A)

Make rs397516698(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

219420347

Gene

DES

is a	snp
is	mentioned by
dbSNP	rs397516698
dbSNP (classic)	rs397516698
ClinGen	rs397516698
ebi	rs397516698
HLI	rs397516698
Exac	rs397516698
Gnomad	rs397516698
Varsome	rs397516698
LitVar	rs397516698
Map	rs397516698
PheGenI	rs397516698
Biobank	rs397516698
1000 genomes	rs397516698
hgdp	rs397516698
ensembl	rs397516698
geneview	rs397516698
scholar	rs397516698
google	rs397516698
pharmgkb	rs397516698
gwascentral	rs397516698
openSNP	rs397516698
23andMe	rs397516698
SNPshot	rs397516698
SNPdbe	rs397516698
MSV3d	rs397516698
GWAS Ctlg	rs397516698

Max Magnitude

6.5

ClinVar
Risk	rs397516698(A;A) rs397516698(C;C)
Alt	rs397516698(A;A) rs397516698(C;C)
Reference	Rs397516698(G;G)
Significance	Other
Disease	Myofibrillar myopathy 1 Dilated cardiomyopathy 1I
Variation	info
Gene	DES
CLNDBN	Myofibrillar myopathy 1 Dilated cardiomyopathy 1I
Reversed	0
HGVS	NC_000002.11:g.220285069G>A; NC_000002.11:g.220285069G>C
CLNSRC	ClinVar
CLNACC	RCV000037249.3, RCV000393713.1, RCV000150381.1,