rs863224915
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs863224915(C;C) |
Make rs863224915(C;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 20 |
Position | 63685798 |
Gene | RTEL1, RTEL1-TNFRSF6B |
is a | snp |
is | mentioned by |
dbSNP | rs863224915 |
dbSNP (classic) | rs863224915 |
ClinGen | rs863224915 |
ebi | rs863224915 |
HLI | rs863224915 |
Exac | rs863224915 |
Gnomad | rs863224915 |
Varsome | rs863224915 |
LitVar | rs863224915 |
Map | rs863224915 |
PheGenI | rs863224915 |
Biobank | rs863224915 |
1000 genomes | rs863224915 |
hgdp | rs863224915 |
ensembl | rs863224915 |
geneview | rs863224915 |
scholar | rs863224915 |
rs863224915 | |
pharmgkb | rs863224915 |
gwascentral | rs863224915 |
openSNP | rs863224915 |
23andMe | rs863224915 |
SNPshot | rs863224915 |
SNPdbe | rs863224915 |
MSV3d | rs863224915 |
GWAS Ctlg | rs863224915 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863224915(C;C) |
Alt | rs863224915(C;C) |
Reference | Rs863224915(T;T) |
Significance | Probable-Pathogenic |
Disease | Dyskeratosis congenita |
Variation | info |
Gene | RTEL1-TNFRSF6B RTEL1 |
CLNDBN | Dyskeratosis congenita, autosomal recessive, 5 |
Reversed | 0 |
HGVS | NC_000020.10:g.62317151T>C |
CLNSRC | |
CLNACC | RCV000195729.1, |