rs28933981
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs28933981(C;T) |
Make rs28933981(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 18 |
Position | 31598647 |
Gene | TTR |
is a | snp |
is | mentioned by |
dbSNP | rs28933981 |
dbSNP (classic) | rs28933981 |
ClinGen | rs28933981 |
ebi | rs28933981 |
HLI | rs28933981 |
Exac | rs28933981 |
Gnomad | rs28933981 |
Varsome | rs28933981 |
LitVar | rs28933981 |
Map | rs28933981 |
PheGenI | rs28933981 |
Biobank | rs28933981 |
1000 genomes | rs28933981 |
hgdp | rs28933981 |
ensembl | rs28933981 |
geneview | rs28933981 |
scholar | rs28933981 |
rs28933981 | |
pharmgkb | rs28933981 |
gwascentral | rs28933981 |
openSNP | rs28933981 |
23andMe | rs28933981 |
SNPshot | rs28933981 |
SNPdbe | rs28933981 |
MSV3d | rs28933981 |
GWAS Ctlg | rs28933981 |
GMAF | 0.001837 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28933981(T;T) |
Alt | rs28933981(T;T) |
Reference | Rs28933981(C;C) |
Significance | Other |
Disease | AMYLOIDOSIS not specified Amyloidogenic transthyretin amyloidosis |
Variation | info |
Gene | TTR |
CLNDBN | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, MODIFIER OF not specified Amyloidogenic transthyretin amyloidosis |
Reversed | 0 |
HGVS | NC_000018.9:g.29178610C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000014376.18, RCV000036376.3, RCV000475117.1, |