rs863225053
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CCATGTCAT;CCATGTCAT) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs863225053(-;-) |
Make rs863225053(-;ATGTCATCC) |
Make rs863225053(ATGTCATCC;ATGTCATCC) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 20 |
Position | 63690164 |
Gene | RTEL1, RTEL1-TNFRSF6B |
is a | snp |
is | mentioned by |
dbSNP | rs863225053 |
dbSNP (classic) | rs863225053 |
ClinGen | rs863225053 |
ebi | rs863225053 |
HLI | rs863225053 |
Exac | rs863225053 |
Gnomad | rs863225053 |
Varsome | rs863225053 |
LitVar | rs863225053 |
Map | rs863225053 |
PheGenI | rs863225053 |
Biobank | rs863225053 |
1000 genomes | rs863225053 |
hgdp | rs863225053 |
ensembl | rs863225053 |
geneview | rs863225053 |
scholar | rs863225053 |
rs863225053 | |
pharmgkb | rs863225053 |
gwascentral | rs863225053 |
openSNP | rs863225053 |
23andMe | rs863225053 |
SNPshot | rs863225053 |
SNPdbe | rs863225053 |
MSV3d | rs863225053 |
GWAS Ctlg | rs863225053 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863225053(-;-) |
Alt | rs863225053(-;-) |
Reference | Rs863225053(CCATGTCAT;CCATGTCAT) |
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.62321517_62321525delATGTCATCC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000201222.3, RCV000201532.1, |