rs121918082
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;G) | 5.5 | TTR-related amyloidosis |
(G;G) | 0 | common in clinvar |
Make rs121918082(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 18 |
Position | 31595244 |
Gene | TTR |
is a | snp |
is | mentioned by |
dbSNP | rs121918082 |
dbSNP (classic) | rs121918082 |
ClinGen | rs121918082 |
ebi | rs121918082 |
HLI | rs121918082 |
Exac | rs121918082 |
Gnomad | rs121918082 |
Varsome | rs121918082 |
LitVar | rs121918082 |
Map | rs121918082 |
PheGenI | rs121918082 |
Biobank | rs121918082 |
1000 genomes | rs121918082 |
hgdp | rs121918082 |
ensembl | rs121918082 |
geneview | rs121918082 |
scholar | rs121918082 |
rs121918082 | |
pharmgkb | rs121918082 |
gwascentral | rs121918082 |
openSNP | rs121918082 |
23andMe | rs121918082 |
SNPshot | rs121918082 |
SNPdbe | rs121918082 |
MSV3d | rs121918082 |
GWAS Ctlg | rs121918082 |
Max Magnitude | 5.5 |
ClinVar | |
---|---|
Risk | rs121918082(C;C) |
Alt | rs121918082(C;C) |
Reference | Rs121918082(G;G) |
Significance | Pathogenic |
Disease | Amyloidogenic transthyretin amyloidosis not provided |
Variation | info |
Gene | TTR |
CLNDBN | Amyloidogenic transthyretin amyloidosis not provided |
Reversed | 0 |
HGVS | NC_000018.9:g.29175207G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000014384.17, RCV000236028.1, |