Evidence Details
| Allele | DQB1*06:02 |
| Disease | narcolepsy |
| Publication | Mignot. Complex HLA-DR and -DQ interactions confer risk of narcolepsy-cataplexy in three ethnic groups. 11179016. |
| Needs Review | False |
| Status | In Progress |
| HCI Evidence ID | E000001 |
| Added | 2025-08-20 |
Data
Edit| Field | Status | Value | Notes |
|---|---|---|---|
| Genome-Wide Association Study | Provided | False | |
| Zygosity | Provided | Monoallelic (heterozygous) | |
| Phase Confirmed | Provided | False | |
| Typing Method | Not Provided | ||
| Demographics | Not Provided | ||
| p-value | Not Provided | ||
| Multiple Testing Correction | Not Provided | ||
| Odds Ratio | Not Provided | ||
| Relative Risk | Not Provided | ||
| Beta Coefficient | Not Provided | ||
| Confidence Interval | Not Provided | ||
| Cohort Size | Not Provided | ||
| Additional Phenotypes | Not Provided | ||
| Significant Association | Provided | True | |
| Needs Review | Provided | False |
Score
| Step | Category | Points |
|---|---|---|
| Step 1A: Allele or Haplotype | Allele | +0.0 |
| Haplotype | +2.0 | |
| Step 1B: Allele Resolution | 1-field | +0.0 |
| 2-field | +1.0 | |
| 3-field, G-group, P-group | +2.0 | |
| 4-field | +3.0 | |
| Step 1C: Zygosity | Monoallelic (heterozygous) | +0.0 |
| Biallelic (homozygous) | +0.5 | |
| Step 1D: Phase | Phase confirmed | +0.5 |
| Step 2: Typing Method | Tagging / Tag SNPs / Microarrays | +0.0 |
| Serological | +1.0 | |
| Imputation | +2.0 | |
| Molecular genotyping (low and high resolution) / Whole exome sequencing / RNA sequencing | +3.0 | |
| Sanger-sequencing-based typing / Whole gene sequencing | +4.0 | |
| Whole genome sequencing / Panel-based next generation sequencing (> 50x coverage) / Long-read sequencing | +5.0 | |
| Step 3A: Statistics (p-value) |
GWAS
Non-GWAS
|
|
|
0.0001 ≤ p-value < ∞
0.05 ≤ p-value < ∞
|
+0.0 | |
|
5E-8 ≤ p-value < 0.0001
0.01 ≤ p-value < 0.05
|
+0.5 | |
|
1E-11 ≤ p-value < 5E-8
0.0005 ≤ p-value < 0.01
|
+1.0 | |
|
1E-14 ≤ p-value < 1E-11
0.0001 ≤ p-value < 0.0005
|
+1.5 | |
|
-∞ < p-value < 1E-14
-∞ < p-value < 0.0001
|
+2.0 | |
| Step 3B: Multiple Testing Correction | Overall correction for multiple testing | +1.0 |
| 2-step p-value correction | +2.0 | |
| Step 3C: Statistics (Effect Size)* |
|
+1.0 |
| CI does not cross 1 (OR/RR) or 0 (beta) | +1.0 | |
| Step 4: Cohort Size |
GWAS
Non-GWAS
|
|
|
-∞ < size < 1000
-∞ < size < 50
|
+0.0 | |
|
1000 ≤ size ≤ 2499
50 ≤ size ≤ 99
|
+1.0 | |
|
2500 ≤ size ≤ 4999
100 ≤ size ≤ 249
|
+2.0 | |
|
5000 ≤ size ≤ 9999
250 ≤ size ≤ 499
|
+3.0 | |
|
10000 ≤ size < ∞
500 ≤ size < ∞
|
+4.0 | |
| Step 5: Additional Phenotypes | Has specific disease-related phenotype | +2.0 |
| Only disease tested | +0.0 | |
| Total Before Multipliers | 1.0 | |
| Step 6A: Weighing Association (multiplier) | Significant association with disease | ×1.0 |
| No significant association | ×0.0 | |
| Step 6B: Low Field Resolution (multiplier) | 1-field resolution | ×0.5 |
| > 1-field resolution | ×1.0 | |
| Total | 1.0 | |
*OR (Odds Ratio), RR (Relative Risk), CI (Confidence Interval).
*Step 3C can award points for both categories (OR/RR/Beta and CI), granting a total of up to 2.