rs756433029
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(I;I) | 0 | common genotype |
(TTTCA;TTTCA) | 0 | common in clinvar |
Make rs756433029(-;-) |
Make rs756433029(-;ACTTT) |
Make rs756433029(ACTTT;ACTTT) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 2 |
Position | 178777235 |
Gene | LOC101927055, TTN |
is a | snp |
is | mentioned by |
dbSNP | rs756433029 |
dbSNP (classic) | rs756433029 |
ClinGen | rs756433029 |
ebi | rs756433029 |
HLI | rs756433029 |
Exac | rs756433029 |
Gnomad | rs756433029 |
Varsome | rs756433029 |
LitVar | rs756433029 |
Map | rs756433029 |
PheGenI | rs756433029 |
Biobank | rs756433029 |
1000 genomes | rs756433029 |
hgdp | rs756433029 |
ensembl | rs756433029 |
geneview | rs756433029 |
scholar | rs756433029 |
rs756433029 | |
pharmgkb | rs756433029 |
gwascentral | rs756433029 |
openSNP | rs756433029 |
23andMe | rs756433029 |
SNPshot | rs756433029 |
SNPdbe | rs756433029 |
MSV3d | rs756433029 |
GWAS Ctlg | rs756433029 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs756433029(-;-) |
Alt | rs756433029(-;-) |
Reference | Rs756433029(TTTCA;TTTCA) |
Significance | Probable-Pathogenic |
Disease | not provided Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy |
Variation | info |
Gene | TTN LOC101927055 |
CLNDBN | not provided Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy, type 2J |
Reversed | 0 |
HGVS | NC_000002.11:g.179641962_179641966delTTTCA |
CLNSRC | |
CLNACC | RCV000184370.1, RCV000209800.1, RCV000226275.1, |