rs759131762
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TACT;TACT) | 0 | common in clinvar |
Make rs759131762(-;-) |
Make rs759131762(-;TACT) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 16 |
Position | 14608274 |
Gene | PARN |
is a | snp |
is | mentioned by |
dbSNP | rs759131762 |
dbSNP (classic) | rs759131762 |
ClinGen | rs759131762 |
ebi | rs759131762 |
HLI | rs759131762 |
Exac | rs759131762 |
Gnomad | rs759131762 |
Varsome | rs759131762 |
LitVar | rs759131762 |
Map | rs759131762 |
PheGenI | rs759131762 |
Biobank | rs759131762 |
1000 genomes | rs759131762 |
hgdp | rs759131762 |
ensembl | rs759131762 |
geneview | rs759131762 |
scholar | rs759131762 |
rs759131762 | |
pharmgkb | rs759131762 |
gwascentral | rs759131762 |
openSNP | rs759131762 |
23andMe | rs759131762 |
SNPshot | rs759131762 |
SNPdbe | rs759131762 |
MSV3d | rs759131762 |
GWAS Ctlg | rs759131762 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs759131762(-;-) |
Alt | rs759131762(-;-) |
Reference | Rs759131762(TACT;TACT) |
Significance | Pathogenic |
Disease | Dyskeratosis congenita Dyskeratosis congenita |
Variation | info |
Gene | PARN |
CLNDBN | Dyskeratosis congenita Dyskeratosis congenita, autosomal recessive 6 |
Reversed | 0 |
HGVS | NC_000016.9:g.14702131_14702134delTACT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000162315.1, RCV000170487.4, |