Gene COL17A1

All Male only Female only
Location (GRCh37):
chr10:105,791,044-105,845,760
Description:
collagen, type XVII, alpha 1 [Source:HGNC Symbol;Acc:2194]
Biotype
Protein coding
Nb components:
30
Ensembl:
ENSG00000065618
HGNC Symbol:
2194
MIM gene:
113811
MIM disease:
226650
Uniprot:
Q9UMD9, A0A3B3ITM2, A0A3B3ITP5, H0Y420, A2A2Y8, A0A3B3ISI7, A0A3B3IUC2
WikiGene:
1308
Median gene-level TPM by tissue (GTEx) [link]:

This plot shows tissues where the current gene is most expressed in GTEx to help contextualize phenotype associations.

Genetic associations QQ-plot

Inflation factor 𝜆=

This plot shows the distribution of observed association P-values compared to the expected distribution under the null hypothesis of no association (uniform distribution of P-values). Systematic deviation from the shaded region indicates statistical inflation that could be explained by pleiotropy.

Continuous variables

Outcome Id Description N -log10(P) P-Value P-Value (Bonferroni) Q-Value

* Values noted as 0 represent values smaller than the numerical floating point representation limit (< 2e-308 for this analysis).

Cardiovascular Endpoints

Outcome Id Description N cases N controls N excluded from controls -log10(P) P-Value P-Value (Bonferroni) Q-Value

Self Reported

Outcome Id Description N cases N controls N excluded from controls -log10(P) P-Value P-Value (Bonferroni) Q-Value

Phecodes

Outcome Id Description N cases N controls N excluded from controls -log10(P) P-Value P-Value (Bonferroni) Q-Value