rs146221660
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs146221660(A;A) |
Make rs146221660(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 20 |
Position | 63693248 |
Gene | RTEL1, RTEL1-TNFRSF6B |
is a | snp |
is | mentioned by |
dbSNP | rs146221660 |
dbSNP (classic) | rs146221660 |
ClinGen | rs146221660 |
ebi | rs146221660 |
HLI | rs146221660 |
Exac | rs146221660 |
Gnomad | rs146221660 |
Varsome | rs146221660 |
LitVar | rs146221660 |
Map | rs146221660 |
PheGenI | rs146221660 |
Biobank | rs146221660 |
1000 genomes | rs146221660 |
hgdp | rs146221660 |
ensembl | rs146221660 |
geneview | rs146221660 |
scholar | rs146221660 |
rs146221660 | |
pharmgkb | rs146221660 |
gwascentral | rs146221660 |
openSNP | rs146221660 |
23andMe | rs146221660 |
SNPshot | rs146221660 |
SNPdbe | rs146221660 |
MSV3d | rs146221660 |
GWAS Ctlg | rs146221660 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs146221660(A;A) rs146221660(T;T) |
Alt | rs146221660(A;A) rs146221660(T;T) |
Reference | Rs146221660(G;G) |
Significance | Pathogenic |
Disease | Pulmonary fibrosis and/or bone marrow failure Idiopathic fibrosing alveolitis |
Variation | info |
Gene | RTEL1-TNFRSF6B RTEL1 |
CLNDBN | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 Idiopathic fibrosing alveolitis, chronic form |
Reversed | 0 |
HGVS | NC_000020.10:g.62324601G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000201216.3, RCV000201575.1, |