rs142777869
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs142777869(G;T) |
Make rs142777869(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 24240746 |
Gene | TINF2 |
is a | snp |
is | mentioned by |
dbSNP | rs142777869 |
dbSNP (classic) | rs142777869 |
ClinGen | rs142777869 |
ebi | rs142777869 |
HLI | rs142777869 |
Exac | rs142777869 |
Gnomad | rs142777869 |
Varsome | rs142777869 |
LitVar | rs142777869 |
Map | rs142777869 |
PheGenI | rs142777869 |
Biobank | rs142777869 |
1000 genomes | rs142777869 |
hgdp | rs142777869 |
ensembl | rs142777869 |
geneview | rs142777869 |
scholar | rs142777869 |
rs142777869 | |
pharmgkb | rs142777869 |
gwascentral | rs142777869 |
openSNP | rs142777869 |
23andMe | rs142777869 |
SNPshot | rs142777869 |
SNPdbe | rs142777869 |
MSV3d | rs142777869 |
GWAS Ctlg | rs142777869 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs142777869(T;T) |
Alt | rs142777869(T;T) |
Reference | Rs142777869(G;G) |
Significance | Pathogenic |
Disease | Dyskeratosis congenita autosomal dominant Revesz syndrome Dyskeratosis Congenita |
Variation | info |
Gene | TINF2 |
CLNDBN | Dyskeratosis congenita autosomal dominant Revesz syndrome Dyskeratosis Congenita, Dominant |
Reversed | 0 |
HGVS | NC_000014.8:g.24709952G>T |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000032164.1, RCV000350321.1, RCV000394153.1, |