rs730881168
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GA;GA) | 0 | common in clinvar |
Make rs730881168(GA;TC) |
Make rs730881168(TC;TC) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 18 |
Position | 31595139 |
Gene | TTR |
is a | snp |
is | mentioned by |
dbSNP | rs730881168 |
dbSNP (classic) | rs730881168 |
ClinGen | rs730881168 |
ebi | rs730881168 |
HLI | rs730881168 |
Exac | rs730881168 |
Gnomad | rs730881168 |
Varsome | rs730881168 |
LitVar | rs730881168 |
Map | rs730881168 |
PheGenI | rs730881168 |
Biobank | rs730881168 |
1000 genomes | rs730881168 |
hgdp | rs730881168 |
ensembl | rs730881168 |
geneview | rs730881168 |
scholar | rs730881168 |
rs730881168 | |
pharmgkb | rs730881168 |
gwascentral | rs730881168 |
openSNP | rs730881168 |
23andMe | rs730881168 |
SNPshot | rs730881168 |
SNPdbe | rs730881168 |
MSV3d | rs730881168 |
GWAS Ctlg | rs730881168 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730881168(TC;TC) |
Alt | rs730881168(TC;TC) |
Reference | Rs730881168(GA;GA) |
Significance | Probable-Pathogenic |
Disease | Cardiomyopathy |
Variation | info |
Gene | TTR |
CLNDBN | Cardiomyopathy |
Reversed | 0 |
HGVS | NC_000018.9:g.29175102_29175103delGAinsTC |
CLNSRC | |
CLNACC | RCV000159435.1, |