rs72646867
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs72646867(C;T) |
Make rs72646867(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 178583028 |
Gene | TTN, TTN-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs72646867 |
dbSNP (classic) | rs72646867 |
ClinGen | rs72646867 |
ebi | rs72646867 |
HLI | rs72646867 |
Exac | rs72646867 |
Gnomad | rs72646867 |
Varsome | rs72646867 |
LitVar | rs72646867 |
Map | rs72646867 |
PheGenI | rs72646867 |
Biobank | rs72646867 |
1000 genomes | rs72646867 |
hgdp | rs72646867 |
ensembl | rs72646867 |
geneview | rs72646867 |
scholar | rs72646867 |
rs72646867 | |
pharmgkb | rs72646867 |
gwascentral | rs72646867 |
openSNP | rs72646867 |
23andMe | rs72646867 |
SNPshot | rs72646867 |
SNPdbe | rs72646867 |
MSV3d | rs72646867 |
GWAS Ctlg | rs72646867 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs72646867(A;A) rs72646867(T;T) |
Alt | rs72646867(A;A) rs72646867(T;T) |
Reference | Rs72646867(C;C) |
Significance | Non-pathogenic |
Disease | not specified Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy Dilated Cardiomyopathy Hypertrophic cardiomyopathy Limb-Girdle Muscular Dystrophy Distal myopathy Markesbery-Griggs type Myopathy Hereditary myopathy with early respiratory failure |
Variation | info |
Gene | TTN TTN-AS1 |
CLNDBN | not specified Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy, type 2J Dilated Cardiomyopathy, Dominant Hypertrophic cardiomyopathy Limb-Girdle Muscular Dystrophy, Recessive Distal myopathy Markesbery-Griggs type Myopathy, early-onset, with fatal cardiomyopathy Hereditary myopathy with early respiratory failure |
Reversed | 1 |
HGVS | NC_000002.11:g.179447755G>A |
CLNSRC | |
CLNACC | RCV000040500.6, RCV000225958.2, RCV000274823.1, RCV000290347.1, RCV000326526.1, RCV000329910.1, RCV000369611.1, RCV000384695.1, |