rs797046060
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GC;GC) | 0 | common in clinvar |
Make rs797046060(A;A) |
Make rs797046060(A;GC) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 178719588 |
Gene | TTN |
is a | snp |
is | mentioned by |
dbSNP | rs797046060 |
dbSNP (classic) | rs797046060 |
ClinGen | rs797046060 |
ebi | rs797046060 |
HLI | rs797046060 |
Exac | rs797046060 |
Gnomad | rs797046060 |
Varsome | rs797046060 |
LitVar | rs797046060 |
Map | rs797046060 |
PheGenI | rs797046060 |
Biobank | rs797046060 |
1000 genomes | rs797046060 |
hgdp | rs797046060 |
ensembl | rs797046060 |
geneview | rs797046060 |
scholar | rs797046060 |
rs797046060 | |
pharmgkb | rs797046060 |
gwascentral | rs797046060 |
openSNP | rs797046060 |
23andMe | rs797046060 |
SNPshot | rs797046060 |
SNPdbe | rs797046060 |
MSV3d | rs797046060 |
GWAS Ctlg | rs797046060 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797046060(A;A) |
Alt | rs797046060(A;A) |
Reference | Rs797046060(GC;GC) |
Significance | Pathogenic |
Disease | Myopathy |
Variation | info |
Gene | TTN |
CLNDBN | Myopathy |
Reversed | 1 |
HGVS | NC_000002.11:g.179584315_179584316delGCinsT |
CLNSRC | |
CLNACC | RCV000193681.1, |