rs199512049
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs199512049(C;C) |
Make rs199512049(C;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 2 |
Position | 178591814 |
Gene | TTN, TTN-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs199512049 |
dbSNP (classic) | rs199512049 |
ClinGen | rs199512049 |
ebi | rs199512049 |
HLI | rs199512049 |
Exac | rs199512049 |
Gnomad | rs199512049 |
Varsome | rs199512049 |
LitVar | rs199512049 |
Map | rs199512049 |
PheGenI | rs199512049 |
Biobank | rs199512049 |
1000 genomes | rs199512049 |
hgdp | rs199512049 |
ensembl | rs199512049 |
geneview | rs199512049 |
scholar | rs199512049 |
rs199512049 | |
pharmgkb | rs199512049 |
gwascentral | rs199512049 |
openSNP | rs199512049 |
23andMe | rs199512049 |
SNPshot | rs199512049 |
SNPdbe | rs199512049 |
MSV3d | rs199512049 |
GWAS Ctlg | rs199512049 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199512049(C;C) |
Alt | rs199512049(C;C) |
Reference | Rs199512049(T;T) |
Significance | Probable-Pathogenic |
Disease | not specified not provided Dilated cardiomyopathy 1G Familial hypertrophic cardiomyopathy 9 Limb-girdle muscular dystrophy |
Variation | info |
Gene | TTN TTN-AS1 |
CLNDBN | not specified not provided Dilated cardiomyopathy 1G Familial hypertrophic cardiomyopathy 9 Limb-girdle muscular dystrophy, type 2J |
Reversed | 0 |
HGVS | NC_000002.11:g.179456541T>C |
CLNSRC | |
CLNACC | RCV000040427.4, RCV000172654.5, RCV000196059.1, RCV000472663.1, |