rs587777037
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs587777037(C;C) |
Make rs587777037(C;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 20 |
Position | 63695558 |
Gene | RTEL1, RTEL1-TNFRSF6B, TNFRSF6B |
is a | snp |
is | mentioned by |
dbSNP | rs587777037 |
dbSNP (classic) | rs587777037 |
ClinGen | rs587777037 |
ebi | rs587777037 |
HLI | rs587777037 |
Exac | rs587777037 |
Gnomad | rs587777037 |
Varsome | rs587777037 |
LitVar | rs587777037 |
Map | rs587777037 |
PheGenI | rs587777037 |
Biobank | rs587777037 |
1000 genomes | rs587777037 |
hgdp | rs587777037 |
ensembl | rs587777037 |
geneview | rs587777037 |
scholar | rs587777037 |
rs587777037 | |
pharmgkb | rs587777037 |
gwascentral | rs587777037 |
openSNP | rs587777037 |
23andMe | rs587777037 |
SNPshot | rs587777037 |
SNPdbe | rs587777037 |
MSV3d | rs587777037 |
GWAS Ctlg | rs587777037 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777037(C;C) |
Alt | rs587777037(C;C) |
Reference | Rs587777037(T;T) |
Significance | Pathogenic |
Disease | Dyskeratosis congenita |
Variation | info |
Gene | RTEL1-TNFRSF6B RTEL1 TNFRSF6B |
CLNDBN | Dyskeratosis congenita, autosomal recessive, 5 |
Reversed | 0 |
HGVS | NC_000020.10:g.62326911T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000055634.5, |