rs786205700
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs786205700(C;T) |
Make rs786205700(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 20 |
Position | 63687740 |
Gene | RTEL1, RTEL1-TNFRSF6B |
is a | snp |
is | mentioned by |
dbSNP | rs786205700 |
dbSNP (classic) | rs786205700 |
ClinGen | rs786205700 |
ebi | rs786205700 |
HLI | rs786205700 |
Exac | rs786205700 |
Gnomad | rs786205700 |
Varsome | rs786205700 |
LitVar | rs786205700 |
Map | rs786205700 |
PheGenI | rs786205700 |
Biobank | rs786205700 |
1000 genomes | rs786205700 |
hgdp | rs786205700 |
ensembl | rs786205700 |
geneview | rs786205700 |
scholar | rs786205700 |
rs786205700 | |
pharmgkb | rs786205700 |
gwascentral | rs786205700 |
openSNP | rs786205700 |
23andMe | rs786205700 |
SNPshot | rs786205700 |
SNPdbe | rs786205700 |
MSV3d | rs786205700 |
GWAS Ctlg | rs786205700 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205700(T;T) |
Alt | rs786205700(T;T) |
Reference | Rs786205700(C;C) |
Significance | Pathogenic |
Disease | Pulmonary fibrosis and/or bone marrow failure |
Variation | info |
Gene | RTEL1-TNFRSF6B RTEL1 |
CLNDBN | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 |
Reversed | 0 |
HGVS | NC_000020.10:g.62319093C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000170594.3, |