rs121909518

Orientation

plus

Stabilized

plus

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

Make rs121909518(A;A)

Reference

GRCh38 38.1/141

Chromosome

7

Position

128858475

Gene

FLNC

is a	snp
is	mentioned by
dbSNP	rs121909518
dbSNP (classic)	rs121909518
ClinGen	rs121909518
ebi	rs121909518
HLI	rs121909518
Exac	rs121909518
Gnomad	rs121909518
Varsome	rs121909518
LitVar	rs121909518
Map	rs121909518
PheGenI	rs121909518
Biobank	rs121909518
1000 genomes	rs121909518
hgdp	rs121909518
ensembl	rs121909518
geneview	rs121909518
scholar	rs121909518
google	rs121909518
pharmgkb	rs121909518
gwascentral	rs121909518
openSNP	rs121909518
23andMe	rs121909518
SNPshot	rs121909518
SNPdbe	rs121909518
MSV3d	rs121909518
GWAS Ctlg	rs121909518

Max Magnitude

6.5

OMIM	102565
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121909518(A;A)
Alt	rs121909518(A;A)
Reference	Rs121909518(G;G)
Significance	Pathogenic
Disease	Myofibrillar myopathy
Variation	info
Gene	FLNC
CLNDBN	Myofibrillar myopathy, filamin C-related
Reversed	0
HGVS	NC_000007.13:g.128498529G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019978.28,