rs11541796
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 5.5 | TTR-related amyloidosis |
Make rs11541796(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 18 |
Position | 31593011 |
Gene | TTR |
is a | snp |
is | mentioned by |
dbSNP | rs11541796 |
dbSNP (classic) | rs11541796 |
ClinGen | rs11541796 |
ebi | rs11541796 |
HLI | rs11541796 |
Exac | rs11541796 |
Gnomad | rs11541796 |
Varsome | rs11541796 |
LitVar | rs11541796 |
Map | rs11541796 |
PheGenI | rs11541796 |
Biobank | rs11541796 |
1000 genomes | rs11541796 |
hgdp | rs11541796 |
ensembl | rs11541796 |
geneview | rs11541796 |
scholar | rs11541796 |
rs11541796 | |
pharmgkb | rs11541796 |
gwascentral | rs11541796 |
openSNP | rs11541796 |
23andMe | rs11541796 |
SNPshot | rs11541796 |
SNPdbe | rs11541796 |
MSV3d | rs11541796 |
GWAS Ctlg | rs11541796 |
Max Magnitude | 5.5 |
ClinVar | |
---|---|
Risk | rs11541796(G;G) |
Alt | rs11541796(G;G) |
Reference | Rs11541796(A;A) |
Significance | Pathogenic |
Disease | Amyloidogenic transthyretin amyloidosis |
Variation | info |
Gene | TTR |
CLNDBN | Amyloidogenic transthyretin amyloidosis |
Reversed | 0 |
HGVS | NC_000018.9:g.29172974A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000014370.17, |