rs267607486

Orientation

plus

Stabilized

plus

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

Make rs267607486(C;C)

Reference

GRCh38.p7 38.3/149

Chromosome

2

Position

219420346

Gene

DES

is a	snp
is	mentioned by
dbSNP	rs267607486
dbSNP (classic)	rs267607486
ClinGen	rs267607486
ebi	rs267607486
HLI	rs267607486
Exac	rs267607486
Gnomad	rs267607486
Varsome	rs267607486
LitVar	rs267607486
Map	rs267607486
PheGenI	rs267607486
Biobank	rs267607486
1000 genomes	rs267607486
hgdp	rs267607486
ensembl	rs267607486
geneview	rs267607486
scholar	rs267607486
google	rs267607486
pharmgkb	rs267607486
gwascentral	rs267607486
openSNP	rs267607486
23andMe	rs267607486
SNPshot	rs267607486
SNPdbe	rs267607486
MSV3d	rs267607486
GWAS Ctlg	rs267607486

Max Magnitude

6.5

ClinVar
Risk	rs267607486(A;A) rs267607486(C;C)
Alt	rs267607486(A;A) rs267607486(C;C)
Reference	Rs267607486(G;G)
Significance	Pathogenic
Disease	Myofibrillar myopathy 1 not provided
Variation	info
Gene	DES
CLNDBN	Myofibrillar myopathy 1 not provided
Reversed	0
HGVS	NC_000002.11:g.220285068G>A; NC_000002.11:g.220285068G>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000398561.1, RCV000489159.1, RCV000056811.1, RCV000304899.1,