rs863223336
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs863223336(-;-) |
Make rs863223336(-;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 20 |
Position | 63666067 |
Gene | RTEL1, RTEL1-TNFRSF6B |
is a | snp |
is | mentioned by |
dbSNP | rs863223336 |
dbSNP (classic) | rs863223336 |
ClinGen | rs863223336 |
ebi | rs863223336 |
HLI | rs863223336 |
Exac | rs863223336 |
Gnomad | rs863223336 |
Varsome | rs863223336 |
LitVar | rs863223336 |
Map | rs863223336 |
PheGenI | rs863223336 |
Biobank | rs863223336 |
1000 genomes | rs863223336 |
hgdp | rs863223336 |
ensembl | rs863223336 |
geneview | rs863223336 |
scholar | rs863223336 |
rs863223336 | |
pharmgkb | rs863223336 |
gwascentral | rs863223336 |
openSNP | rs863223336 |
23andMe | rs863223336 |
SNPshot | rs863223336 |
SNPdbe | rs863223336 |
MSV3d | rs863223336 |
GWAS Ctlg | rs863223336 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863223336(-;-) |
Alt | rs863223336(-;-) |
Reference | Rs863223336(G;G) |
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.62297420delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000170593.4, |