rs370343781
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs370343781(G;T) |
Make rs370343781(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 63687765 |
Gene | RTEL1, RTEL1-TNFRSF6B |
is a | snp |
is | mentioned by |
dbSNP | rs370343781 |
dbSNP (classic) | rs370343781 |
ClinGen | rs370343781 |
ebi | rs370343781 |
HLI | rs370343781 |
Exac | rs370343781 |
Gnomad | rs370343781 |
Varsome | rs370343781 |
LitVar | rs370343781 |
Map | rs370343781 |
PheGenI | rs370343781 |
Biobank | rs370343781 |
1000 genomes | rs370343781 |
hgdp | rs370343781 |
ensembl | rs370343781 |
geneview | rs370343781 |
scholar | rs370343781 |
rs370343781 | |
pharmgkb | rs370343781 |
gwascentral | rs370343781 |
openSNP | rs370343781 |
23andMe | rs370343781 |
SNPshot | rs370343781 |
SNPdbe | rs370343781 |
MSV3d | rs370343781 |
GWAS Ctlg | rs370343781 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs370343781(T;T) |
Alt | rs370343781(T;T) |
Reference | Rs370343781(G;G) |
Significance | Pathogenic |
Disease | Dyskeratosis congenita |
Variation | info |
Gene | RTEL1-TNFRSF6B RTEL1 |
CLNDBN | Dyskeratosis congenita, autosomal recessive, 5 |
Reversed | 0 |
HGVS | NC_000020.10:g.62319118G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000034861.8, |