rs776744306
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs776744306(C;C) |
Make rs776744306(C;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 20 |
Position | 63690442 |
Gene | RTEL1, RTEL1-TNFRSF6B |
is a | snp |
is | mentioned by |
dbSNP | rs776744306 |
dbSNP (classic) | rs776744306 |
ClinGen | rs776744306 |
ebi | rs776744306 |
HLI | rs776744306 |
Exac | rs776744306 |
Gnomad | rs776744306 |
Varsome | rs776744306 |
LitVar | rs776744306 |
Map | rs776744306 |
PheGenI | rs776744306 |
Biobank | rs776744306 |
1000 genomes | rs776744306 |
hgdp | rs776744306 |
ensembl | rs776744306 |
geneview | rs776744306 |
scholar | rs776744306 |
rs776744306 | |
pharmgkb | rs776744306 |
gwascentral | rs776744306 |
openSNP | rs776744306 |
23andMe | rs776744306 |
SNPshot | rs776744306 |
SNPdbe | rs776744306 |
MSV3d | rs776744306 |
GWAS Ctlg | rs776744306 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs776744306(A;A) rs776744306(C;C) |
Alt | rs776744306(A;A) rs776744306(C;C) |
Reference | Rs776744306(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.62321795G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000201225.3, RCV000201651.1, |