Marker Atlasv2.5.1
Aggregate J&K frequency evidence · static searchable report

Clinical, pharmacogenomic and association marker atlas

All markers available to this JKDNA build are retained, including covered variants whose effect allele was not observed, variants with unresolved allele orientation, and curated loci not covered by the frequency dataset. Large categories open into searchable, paginated tables.

13curated PGx markers audited
13curated GWAS / association markers
10,689ClinVar P/LP locus–allele records screened
Interpretation boundary: “effect allele not observed” means its frequency was zero among callable aggregate data at that marker. It is not proof of absence in Jammu & Kashmir and does not mean that any individual has a “normal genotype.” Reference/reference percentages are Hardy–Weinberg estimates for autosomal markers, not observed genotypes. Clinical care requires an individual result, quality review and confirmatory testing.

Pharmacogenomic markers

drug-wise marker evidence and screened non-findings ▾

Marker-level frequencies do not establish star alleles, diplotypes, copy number, HLA type or metabolizer phenotype. A zero effect-allele frequency is retained as a screened population-level non-finding.

GWAS and association-study SNPs

trait associations ▾

These are replicated association markers in the curated JKDNA panel. Association is not diagnosis or necessarily clinical actionability; odds ratios are study-level effect estimates and do not provide absolute or personal risk.

Rare-disease and ClinVar P/LP cross-references

large searchable table ▾

The small curated clinical audit is followed by every SNV intersected with the local official GRCh37 ClinVar snapshot, restricted to pathogenic/likely pathogenic classifications with at least one review star. Array rare-site signals are candidates for QC and sequencing—not diagnoses.

Curated clinical marker audit

ClinVar intersection

Reference scope: CPIC guidelines · NHGRI-EBI GWAS Catalog · NCBI ClinVar downloads. ClinVar changes over time; this page represents the reference snapshot bundled with report v2.5.1.