Examples - Gene: BRCA1, Transcript: ENST00000471181, Variant: chr17-41223094-T-C, Multi-allelic variant: rs80357001, Region: 17:41223094-41246856
Current Reference Build: GRCh37
The Phase I results including comprehensive variation and their allele frequency information from 141,431 unrelated healthy Chinese females.The article was published in the scientific journal Cell. DOI: 10.1016/j.cell.2018.08.016 or PMID: 30290141.