rs750969198
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs750969198(C;T) |
Make rs750969198(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 178540145 |
Gene | TTN, TTN-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs750969198 |
dbSNP (classic) | rs750969198 |
ClinGen | rs750969198 |
ebi | rs750969198 |
HLI | rs750969198 |
Exac | rs750969198 |
Gnomad | rs750969198 |
Varsome | rs750969198 |
LitVar | rs750969198 |
Map | rs750969198 |
PheGenI | rs750969198 |
Biobank | rs750969198 |
1000 genomes | rs750969198 |
hgdp | rs750969198 |
ensembl | rs750969198 |
geneview | rs750969198 |
scholar | rs750969198 |
rs750969198 | |
pharmgkb | rs750969198 |
gwascentral | rs750969198 |
openSNP | rs750969198 |
23andMe | rs750969198 |
SNPshot | rs750969198 |
SNPdbe | rs750969198 |
MSV3d | rs750969198 |
GWAS Ctlg | rs750969198 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs750969198(T;T) |
Alt | rs750969198(T;T) |
Reference | Rs750969198(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided not specified |
Variation | info |
Gene | TTN TTN-AS1 |
CLNDBN | not provided not specified |
Reversed | 0 |
HGVS | NC_000002.11:g.179404872C>T |
CLNSRC | |
CLNACC | RCV000171308.2, RCV000412703.1, |