rs878853260
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs878853260(-;T) |
Make rs878853260(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 16 |
Position | 14609114 |
Gene | PARN |
is a | snp |
is | mentioned by |
dbSNP | rs878853260 |
dbSNP (classic) | rs878853260 |
ClinGen | rs878853260 |
ebi | rs878853260 |
HLI | rs878853260 |
Exac | rs878853260 |
Gnomad | rs878853260 |
Varsome | rs878853260 |
LitVar | rs878853260 |
Map | rs878853260 |
PheGenI | rs878853260 |
Biobank | rs878853260 |
1000 genomes | rs878853260 |
hgdp | rs878853260 |
ensembl | rs878853260 |
geneview | rs878853260 |
scholar | rs878853260 |
rs878853260 | |
pharmgkb | rs878853260 |
gwascentral | rs878853260 |
openSNP | rs878853260 |
23andMe | rs878853260 |
SNPshot | rs878853260 |
SNPdbe | rs878853260 |
MSV3d | rs878853260 |
GWAS Ctlg | rs878853260 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs878853260(T;T) |
Alt | rs878853260(T;T) |
Reference | Rs878853260(-;-) |
Significance | Pathogenic |
Disease | Pulmonary fibrosis and/or bone marrow failure |
Variation | info |
Gene | PARN |
CLNDBN | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 |
Reversed | 1 |
HGVS | NC_000016.9:g.14702972dupA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000170591.2, |