rs746721983
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs746721983(A;A) |
Make rs746721983(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 178706629 |
Gene | TTN |
is a | snp |
is | mentioned by |
dbSNP | rs746721983 |
dbSNP (classic) | rs746721983 |
ClinGen | rs746721983 |
ebi | rs746721983 |
HLI | rs746721983 |
Exac | rs746721983 |
Gnomad | rs746721983 |
Varsome | rs746721983 |
LitVar | rs746721983 |
Map | rs746721983 |
PheGenI | rs746721983 |
Biobank | rs746721983 |
1000 genomes | rs746721983 |
hgdp | rs746721983 |
ensembl | rs746721983 |
geneview | rs746721983 |
scholar | rs746721983 |
rs746721983 | |
pharmgkb | rs746721983 |
gwascentral | rs746721983 |
openSNP | rs746721983 |
23andMe | rs746721983 |
SNPshot | rs746721983 |
SNPdbe | rs746721983 |
MSV3d | rs746721983 |
GWAS Ctlg | rs746721983 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs746721983(A;A) |
Alt | rs746721983(A;A) |
Reference | Rs746721983(G;G) |
Significance | Pathogenic |
Disease | Myopathy |
Variation | info |
Gene | TTN |
CLNDBN | Myopathy |
Reversed | 0 |
HGVS | NC_000002.11:g.179571356G>A |
CLNSRC | |
CLNACC | RCV000195104.1, |