rs879255639
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 6.5 | Myofibrillar Myopathy |
Make rs879255639(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 7 |
Position | 128848926 |
Gene | FLNC |
is a | snp |
is | mentioned by |
dbSNP | rs879255639 |
dbSNP (classic) | rs879255639 |
ClinGen | rs879255639 |
ebi | rs879255639 |
HLI | rs879255639 |
Exac | rs879255639 |
Gnomad | rs879255639 |
Varsome | rs879255639 |
LitVar | rs879255639 |
Map | rs879255639 |
PheGenI | rs879255639 |
Biobank | rs879255639 |
1000 genomes | rs879255639 |
hgdp | rs879255639 |
ensembl | rs879255639 |
geneview | rs879255639 |
scholar | rs879255639 |
rs879255639 | |
pharmgkb | rs879255639 |
gwascentral | rs879255639 |
openSNP | rs879255639 |
23andMe | rs879255639 |
SNPshot | rs879255639 |
SNPdbe | rs879255639 |
MSV3d | rs879255639 |
GWAS Ctlg | rs879255639 |
Max Magnitude | 6.5 |
ClinVar | |
---|---|
Risk | rs879255639(T;T) |
Alt | rs879255639(T;T) |
Reference | Rs879255639(C;C) |
Significance | Pathogenic |
Disease | Cardiomyopathy |
Variation | info |
Gene | FLNC |
CLNDBN | Cardiomyopathy, familial restrictive, 5 |
Reversed | 0 |
HGVS | NC_000007.13:g.128488980C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000239540.1, |