rs121918312

Orientation

plus

Stabilized

plus

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

Make rs121918312(C;T)

Make rs121918312(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

119672373

Gene

BAG3

is a	snp
is	mentioned by
dbSNP	rs121918312
dbSNP (classic)	rs121918312
ClinGen	rs121918312
ebi	rs121918312
HLI	rs121918312
Exac	rs121918312
Gnomad	rs121918312
Varsome	rs121918312
LitVar	rs121918312
Map	rs121918312
PheGenI	rs121918312
Biobank	rs121918312
1000 genomes	rs121918312
hgdp	rs121918312
ensembl	rs121918312
geneview	rs121918312
scholar	rs121918312
google	rs121918312
pharmgkb	rs121918312
gwascentral	rs121918312
openSNP	rs121918312
23andMe	rs121918312
SNPshot	rs121918312
SNPdbe	rs121918312
MSV3d	rs121918312
GWAS Ctlg	rs121918312

Max Magnitude

6.5

OMIM	603883
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121918312(A;A) rs121918312(T;T)
Alt	rs121918312(A;A) rs121918312(T;T)
Reference	Rs121918312(C;C)
Significance	Pathogenic
Disease	Myofibrillar myopathy not provided
Variation	info
Gene	BAG3
CLNDBN	Myofibrillar myopathy, BAG3-related not provided
Reversed	0
HGVS	NC_000010.10:g.121431885C>A; NC_000010.10:g.121431885C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000144684.2, RCV000006347.3, RCV000183317.2,