rs72646831
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs72646831(C;T) |
Make rs72646831(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 2 |
Position | 178597751 |
Gene | TTN, TTN-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs72646831 |
dbSNP (classic) | rs72646831 |
ClinGen | rs72646831 |
ebi | rs72646831 |
HLI | rs72646831 |
Exac | rs72646831 |
Gnomad | rs72646831 |
Varsome | rs72646831 |
LitVar | rs72646831 |
Map | rs72646831 |
PheGenI | rs72646831 |
Biobank | rs72646831 |
1000 genomes | rs72646831 |
hgdp | rs72646831 |
ensembl | rs72646831 |
geneview | rs72646831 |
scholar | rs72646831 |
rs72646831 | |
pharmgkb | rs72646831 |
gwascentral | rs72646831 |
openSNP | rs72646831 |
23andMe | rs72646831 |
SNPshot | rs72646831 |
SNPdbe | rs72646831 |
MSV3d | rs72646831 |
GWAS Ctlg | rs72646831 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs72646831(T;T) |
Alt | rs72646831(T;T) |
Reference | Rs72646831(C;C) |
Significance | Pathogenic |
Disease | Primary dilated cardiomyopathy not provided not specified |
Variation | info |
Gene | TTN TTN-AS1 |
CLNDBN | Primary dilated cardiomyopathy not provided not specified |
Reversed | 1 |
HGVS | NC_000002.11:g.179462478G>A |
CLNSRC | ClinVar |
CLNACC | RCV000157562.2, RCV000184240.1, RCV000223733.1, |