rs748223349
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs748223349(C;C) |
Make rs748223349(C;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 20 |
Position | 63688001 |
Gene | RTEL1, RTEL1-TNFRSF6B |
is a | snp |
is | mentioned by |
dbSNP | rs748223349 |
dbSNP (classic) | rs748223349 |
ClinGen | rs748223349 |
ebi | rs748223349 |
HLI | rs748223349 |
Exac | rs748223349 |
Gnomad | rs748223349 |
Varsome | rs748223349 |
LitVar | rs748223349 |
Map | rs748223349 |
PheGenI | rs748223349 |
Biobank | rs748223349 |
1000 genomes | rs748223349 |
hgdp | rs748223349 |
ensembl | rs748223349 |
geneview | rs748223349 |
scholar | rs748223349 |
rs748223349 | |
pharmgkb | rs748223349 |
gwascentral | rs748223349 |
openSNP | rs748223349 |
23andMe | rs748223349 |
SNPshot | rs748223349 |
SNPdbe | rs748223349 |
MSV3d | rs748223349 |
GWAS Ctlg | rs748223349 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs748223349(A;A) rs748223349(C;C) |
Alt | rs748223349(A;A) rs748223349(C;C) |
Reference | Rs748223349(G;G) |
Significance | Pathogenic |
Disease | Idiopathic fibrosing alveolitis |
Variation | info |
Gene | RTEL1-TNFRSF6B RTEL1 |
CLNDBN | Idiopathic fibrosing alveolitis, chronic form |
Reversed | 0 |
HGVS | NC_000020.10:g.62319354G>C |
CLNSRC | |
CLNACC | RCV000201648.1, |