rs104894664
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 5.5 | TTR-related amyloidosis |
(G;G) | 0 | common in clinvar |
Make rs104894664(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 18 |
Position | 31592959 |
Gene | TTR |
is a | snp |
is | mentioned by |
dbSNP | rs104894664 |
dbSNP (classic) | rs104894664 |
ClinGen | rs104894664 |
ebi | rs104894664 |
HLI | rs104894664 |
Exac | rs104894664 |
Gnomad | rs104894664 |
Varsome | rs104894664 |
LitVar | rs104894664 |
Map | rs104894664 |
PheGenI | rs104894664 |
Biobank | rs104894664 |
1000 genomes | rs104894664 |
hgdp | rs104894664 |
ensembl | rs104894664 |
geneview | rs104894664 |
scholar | rs104894664 |
rs104894664 | |
pharmgkb | rs104894664 |
gwascentral | rs104894664 |
openSNP | rs104894664 |
23andMe | rs104894664 |
SNPshot | rs104894664 |
SNPdbe | rs104894664 |
MSV3d | rs104894664 |
GWAS Ctlg | rs104894664 |
Max Magnitude | 5.5 |
ClinVar | |
---|---|
Risk | rs104894664(A;A) |
Alt | rs104894664(A;A) |
Reference | Rs104894664(G;G) |
Significance | Pathogenic |
Disease | Amyloidogenic transthyretin amyloidosis |
Variation | info |
Gene | TTR |
CLNDBN | Amyloidogenic transthyretin amyloidosis |
Reversed | 0 |
HGVS | NC_000018.9:g.29172922G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000014379.23, |