rs387906586

Orientation

plus

Stabilized

plus

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

Make rs387906586(C;C)

Reference

GRCh38 38.1/141

Chromosome

7

Position

128837450

Gene

FLNC

is a	snp
is	mentioned by
dbSNP	rs387906586
dbSNP (classic)	rs387906586
ClinGen	rs387906586
ebi	rs387906586
HLI	rs387906586
Exac	rs387906586
Gnomad	rs387906586
Varsome	rs387906586
LitVar	rs387906586
Map	rs387906586
PheGenI	rs387906586
Biobank	rs387906586
1000 genomes	rs387906586
hgdp	rs387906586
ensembl	rs387906586
geneview	rs387906586
scholar	rs387906586
google	rs387906586
pharmgkb	rs387906586
gwascentral	rs387906586
openSNP	rs387906586
23andMe	rs387906586
SNPshot	rs387906586
SNPdbe	rs387906586
MSV3d	rs387906586
GWAS Ctlg	rs387906586

Max Magnitude

6.5

ClinVar
Risk	rs387906586(C;C)
Alt	rs387906586(C;C)
Reference	Rs387906586(T;T)
Significance	Pathogenic
Disease	Myopathy
Variation	info
Gene	FLNC
CLNDBN	Myopathy, distal, 4
Reversed	0
HGVS	NC_000007.13:g.128477504T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000022428.28,