rs879255640
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs879255640(A;T) |
Make rs879255640(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 7 |
Position | 128853831 |
Gene | FLNC |
is a | snp |
is | mentioned by |
dbSNP | rs879255640 |
dbSNP (classic) | rs879255640 |
ClinGen | rs879255640 |
ebi | rs879255640 |
HLI | rs879255640 |
Exac | rs879255640 |
Gnomad | rs879255640 |
Varsome | rs879255640 |
LitVar | rs879255640 |
Map | rs879255640 |
PheGenI | rs879255640 |
Biobank | rs879255640 |
1000 genomes | rs879255640 |
hgdp | rs879255640 |
ensembl | rs879255640 |
geneview | rs879255640 |
scholar | rs879255640 |
rs879255640 | |
pharmgkb | rs879255640 |
gwascentral | rs879255640 |
openSNP | rs879255640 |
23andMe | rs879255640 |
SNPshot | rs879255640 |
SNPdbe | rs879255640 |
MSV3d | rs879255640 |
GWAS Ctlg | rs879255640 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879255640(T;T) |
Alt | rs879255640(T;T) |
Reference | Rs879255640(A;A) |
Significance | Pathogenic |
Disease | Cardiomyopathy |
Variation | info |
Gene | FLNC |
CLNDBN | Cardiomyopathy, familial restrictive, 5 |
Reversed | 0 |
HGVS | NC_000007.13:g.128493885A>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000239590.1, |