rs786205702
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs786205702(A;C) |
Make rs786205702(C;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 20 |
Position | 63695093 |
Gene | RTEL1, RTEL1-TNFRSF6B, TNFRSF6B |
is a | snp |
is | mentioned by |
dbSNP | rs786205702 |
dbSNP (classic) | rs786205702 |
ClinGen | rs786205702 |
ebi | rs786205702 |
HLI | rs786205702 |
Exac | rs786205702 |
Gnomad | rs786205702 |
Varsome | rs786205702 |
LitVar | rs786205702 |
Map | rs786205702 |
PheGenI | rs786205702 |
Biobank | rs786205702 |
1000 genomes | rs786205702 |
hgdp | rs786205702 |
ensembl | rs786205702 |
geneview | rs786205702 |
scholar | rs786205702 |
rs786205702 | |
pharmgkb | rs786205702 |
gwascentral | rs786205702 |
openSNP | rs786205702 |
23andMe | rs786205702 |
SNPshot | rs786205702 |
SNPdbe | rs786205702 |
MSV3d | rs786205702 |
GWAS Ctlg | rs786205702 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205702(C;C) |
Alt | rs786205702(C;C) |
Reference | Rs786205702(A;A) |
Significance | Pathogenic |
Disease | Pulmonary fibrosis and/or bone marrow failure |
Variation | info |
Gene | RTEL1-TNFRSF6B RTEL1 TNFRSF6B |
CLNDBN | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 |
Reversed | 0 |
HGVS | NC_000020.10:g.62326446A>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000170596.3, |