rs267607160
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;C) | 5.5 | TTR-related amyloidosis |
Make rs267607160(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 18 |
Position | 31595189 |
Gene | TTR |
is a | snp |
is | mentioned by |
dbSNP | rs267607160 |
dbSNP (classic) | rs267607160 |
ClinGen | rs267607160 |
ebi | rs267607160 |
HLI | rs267607160 |
Exac | rs267607160 |
Gnomad | rs267607160 |
Varsome | rs267607160 |
LitVar | rs267607160 |
Map | rs267607160 |
PheGenI | rs267607160 |
Biobank | rs267607160 |
1000 genomes | rs267607160 |
hgdp | rs267607160 |
ensembl | rs267607160 |
geneview | rs267607160 |
scholar | rs267607160 |
rs267607160 | |
pharmgkb | rs267607160 |
gwascentral | rs267607160 |
openSNP | rs267607160 |
23andMe | rs267607160 |
SNPshot | rs267607160 |
SNPdbe | rs267607160 |
MSV3d | rs267607160 |
GWAS Ctlg | rs267607160 |
Max Magnitude | 5.5 |
ClinVar | |
---|---|
Risk | rs267607160(C;C) |
Alt | rs267607160(C;C) |
Reference | Rs267607160(A;A) |
Significance | Pathogenic |
Disease | Amyloidogenic transthyretin amyloidosis |
Variation | info |
Gene | TTR |
CLNDBN | Amyloidogenic transthyretin amyloidosis |
Reversed | 0 |
HGVS | NC_000018.9:g.29175152A>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000014385.25, |