rs770606675
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 6.5 | Myofibrillar Myopathy |
Make rs770606675(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 7 |
Position | 128841304 |
Gene | FLNC |
is a | snp |
is | mentioned by |
dbSNP | rs770606675 |
dbSNP (classic) | rs770606675 |
ClinGen | rs770606675 |
ebi | rs770606675 |
HLI | rs770606675 |
Exac | rs770606675 |
Gnomad | rs770606675 |
Varsome | rs770606675 |
LitVar | rs770606675 |
Map | rs770606675 |
PheGenI | rs770606675 |
Biobank | rs770606675 |
1000 genomes | rs770606675 |
hgdp | rs770606675 |
ensembl | rs770606675 |
geneview | rs770606675 |
scholar | rs770606675 |
rs770606675 | |
pharmgkb | rs770606675 |
gwascentral | rs770606675 |
openSNP | rs770606675 |
23andMe | rs770606675 |
SNPshot | rs770606675 |
SNPdbe | rs770606675 |
MSV3d | rs770606675 |
GWAS Ctlg | rs770606675 |
Max Magnitude | 6.5 |
ClinVar | |
---|---|
Risk | rs770606675(G;G) rs770606675(T;T) |
Alt | rs770606675(G;G) rs770606675(T;T) |
Reference | Rs770606675(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | FLNC |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000007.13:g.128481358C>T |
CLNSRC | |
CLNACC | RCV000479811.1, |