rs786205701
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs786205701(C;T) |
Make rs786205701(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 20 |
Position | 63689801 |
Gene | RTEL1, RTEL1-TNFRSF6B |
is a | snp |
is | mentioned by |
dbSNP | rs786205701 |
dbSNP (classic) | rs786205701 |
ClinGen | rs786205701 |
ebi | rs786205701 |
HLI | rs786205701 |
Exac | rs786205701 |
Gnomad | rs786205701 |
Varsome | rs786205701 |
LitVar | rs786205701 |
Map | rs786205701 |
PheGenI | rs786205701 |
Biobank | rs786205701 |
1000 genomes | rs786205701 |
hgdp | rs786205701 |
ensembl | rs786205701 |
geneview | rs786205701 |
scholar | rs786205701 |
rs786205701 | |
pharmgkb | rs786205701 |
gwascentral | rs786205701 |
openSNP | rs786205701 |
23andMe | rs786205701 |
SNPshot | rs786205701 |
SNPdbe | rs786205701 |
MSV3d | rs786205701 |
GWAS Ctlg | rs786205701 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205701(T;T) |
Alt | rs786205701(T;T) |
Reference | Rs786205701(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.62321154C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000170595.2, |