rs138065384
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs138065384(C;C) |
Make rs138065384(C;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 18 |
Position | 31593016 |
Gene | TTR |
is a | snp |
is | mentioned by |
dbSNP | rs138065384 |
dbSNP (classic) | rs138065384 |
ClinGen | rs138065384 |
ebi | rs138065384 |
HLI | rs138065384 |
Exac | rs138065384 |
Gnomad | rs138065384 |
Varsome | rs138065384 |
LitVar | rs138065384 |
Map | rs138065384 |
PheGenI | rs138065384 |
Biobank | rs138065384 |
1000 genomes | rs138065384 |
hgdp | rs138065384 |
ensembl | rs138065384 |
geneview | rs138065384 |
scholar | rs138065384 |
rs138065384 | |
pharmgkb | rs138065384 |
gwascentral | rs138065384 |
openSNP | rs138065384 |
23andMe | rs138065384 |
SNPshot | rs138065384 |
SNPdbe | rs138065384 |
MSV3d | rs138065384 |
GWAS Ctlg | rs138065384 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs138065384(C;C) |
Alt | rs138065384(C;C) |
Reference | Rs138065384(T;T) |
Significance | Probable-Pathogenic |
Disease | not specified Amyloidogenic transthyretin amyloidosis |
Variation | info |
Gene | TTR |
CLNDBN | not specified Amyloidogenic transthyretin amyloidosis |
Reversed | 0 |
HGVS | NC_000018.9:g.29172979T>C |
CLNSRC | |
CLNACC | RCV000155021.2, RCV000474349.1, |