rs748313513
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs748313513(A;A) |
Make rs748313513(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 178799836 |
Gene | TTN |
is a | snp |
is | mentioned by |
dbSNP | rs748313513 |
dbSNP (classic) | rs748313513 |
ClinGen | rs748313513 |
ebi | rs748313513 |
HLI | rs748313513 |
Exac | rs748313513 |
Gnomad | rs748313513 |
Varsome | rs748313513 |
LitVar | rs748313513 |
Map | rs748313513 |
PheGenI | rs748313513 |
Biobank | rs748313513 |
1000 genomes | rs748313513 |
hgdp | rs748313513 |
ensembl | rs748313513 |
geneview | rs748313513 |
scholar | rs748313513 |
rs748313513 | |
pharmgkb | rs748313513 |
gwascentral | rs748313513 |
openSNP | rs748313513 |
23andMe | rs748313513 |
SNPshot | rs748313513 |
SNPdbe | rs748313513 |
MSV3d | rs748313513 |
GWAS Ctlg | rs748313513 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs748313513(A;A) rs748313513(T;T) |
Alt | rs748313513(A;A) rs748313513(T;T) |
Reference | Rs748313513(G;G) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | TTN |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.179664563G>A |
CLNSRC | |
CLNACC | RCV000184292.1, |