rs587780495
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs587780495(C;C) |
Make rs587780495(C;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 178539459 |
Gene | TTN, TTN-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs587780495 |
dbSNP (classic) | rs587780495 |
ClinGen | rs587780495 |
ebi | rs587780495 |
HLI | rs587780495 |
Exac | rs587780495 |
Gnomad | rs587780495 |
Varsome | rs587780495 |
LitVar | rs587780495 |
Map | rs587780495 |
PheGenI | rs587780495 |
Biobank | rs587780495 |
1000 genomes | rs587780495 |
hgdp | rs587780495 |
ensembl | rs587780495 |
geneview | rs587780495 |
scholar | rs587780495 |
rs587780495 | |
pharmgkb | rs587780495 |
gwascentral | rs587780495 |
openSNP | rs587780495 |
23andMe | rs587780495 |
SNPshot | rs587780495 |
SNPdbe | rs587780495 |
MSV3d | rs587780495 |
GWAS Ctlg | rs587780495 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587780495(A;A) rs587780495(C;C) |
Alt | rs587780495(A;A) rs587780495(C;C) |
Reference | Rs587780495(G;G) |
Significance | Probable-Pathogenic |
Disease | Distal myopathy Markesbery-Griggs type |
Variation | info |
Gene | TTN TTN-AS1 |
CLNDBN | Distal myopathy Markesbery-Griggs type |
Reversed | 1 |
HGVS | NC_000002.11:g.179404186C>G |
CLNSRC | |
CLNACC | RCV000118795.1, |