rs751746401
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs751746401(A;A) |
Make rs751746401(A;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 2 |
Position | 178617857 |
Gene | TTN, TTN-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs751746401 |
dbSNP (classic) | rs751746401 |
ClinGen | rs751746401 |
ebi | rs751746401 |
HLI | rs751746401 |
Exac | rs751746401 |
Gnomad | rs751746401 |
Varsome | rs751746401 |
LitVar | rs751746401 |
Map | rs751746401 |
PheGenI | rs751746401 |
Biobank | rs751746401 |
1000 genomes | rs751746401 |
hgdp | rs751746401 |
ensembl | rs751746401 |
geneview | rs751746401 |
scholar | rs751746401 |
rs751746401 | |
pharmgkb | rs751746401 |
gwascentral | rs751746401 |
openSNP | rs751746401 |
23andMe | rs751746401 |
SNPshot | rs751746401 |
SNPdbe | rs751746401 |
MSV3d | rs751746401 |
GWAS Ctlg | rs751746401 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs751746401(A;A) |
Alt | rs751746401(A;A) |
Reference | Rs751746401(G;G) |
Significance | Probable-Pathogenic |
Disease | Cardiovascular phenotype Dilated cardiomyopathy 1G |
Variation | info |
Gene | TTN TTN-AS1 |
CLNDBN | Cardiovascular phenotype Dilated cardiomyopathy 1G |
Reversed | 0 |
HGVS | NC_000002.11:g.179482584G>A |
CLNSRC | |
CLNACC | RCV000250497.1, RCV000464828.1, |