rs398123048
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs398123048(C;G) |
Make rs398123048(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 63689821 |
Gene | RTEL1, RTEL1-TNFRSF6B |
is a | snp |
is | mentioned by |
dbSNP | rs398123048 |
dbSNP (classic) | rs398123048 |
ClinGen | rs398123048 |
ebi | rs398123048 |
HLI | rs398123048 |
Exac | rs398123048 |
Gnomad | rs398123048 |
Varsome | rs398123048 |
LitVar | rs398123048 |
Map | rs398123048 |
PheGenI | rs398123048 |
Biobank | rs398123048 |
1000 genomes | rs398123048 |
hgdp | rs398123048 |
ensembl | rs398123048 |
geneview | rs398123048 |
scholar | rs398123048 |
rs398123048 | |
pharmgkb | rs398123048 |
gwascentral | rs398123048 |
openSNP | rs398123048 |
23andMe | rs398123048 |
SNPshot | rs398123048 |
SNPdbe | rs398123048 |
MSV3d | rs398123048 |
GWAS Ctlg | rs398123048 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398123048(G;G) |
Alt | rs398123048(G;G) |
Reference | Rs398123048(C;C) |
Significance | Pathogenic |
Disease | Dyskeratosis congenita |
Variation | info |
Gene | RTEL1-TNFRSF6B RTEL1 |
CLNDBN | Dyskeratosis congenita, autosomal recessive, 5 |
Reversed | 0 |
HGVS | NC_000020.10:g.62321174C>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000055635.5, |