rs876661305
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs876661305(C;T) |
Make rs876661305(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 16 |
Position | 14610669 |
Gene | PARN |
is a | snp |
is | mentioned by |
dbSNP | rs876661305 |
dbSNP (classic) | rs876661305 |
ClinGen | rs876661305 |
ebi | rs876661305 |
HLI | rs876661305 |
Exac | rs876661305 |
Gnomad | rs876661305 |
Varsome | rs876661305 |
LitVar | rs876661305 |
Map | rs876661305 |
PheGenI | rs876661305 |
Biobank | rs876661305 |
1000 genomes | rs876661305 |
hgdp | rs876661305 |
ensembl | rs876661305 |
geneview | rs876661305 |
scholar | rs876661305 |
rs876661305 | |
pharmgkb | rs876661305 |
gwascentral | rs876661305 |
openSNP | rs876661305 |
23andMe | rs876661305 |
SNPshot | rs876661305 |
SNPdbe | rs876661305 |
MSV3d | rs876661305 |
GWAS Ctlg | rs876661305 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs876661305(T;T) |
Alt | rs876661305(T;T) |
Reference | Rs876661305(C;C) |
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.14704526G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000170590.2, |