clingen-dosage-json

"clingenDosageSensitivityMap": [{
    "chromosome": "15",
    "begin": 30900686,
    "end": 32153204,
    "haploinsufficiency": "sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype",
    "triplosensitivity": "little evidence suggesting dosage sensitivity is associated with clinical phenotype",
    "reciprocalOverlap": 0.00147,
    "annotationOverlap": 0.33994
},
{
    "chromosome": "15",
    "begin": 31727418,
    "end": 32153204,
    "haploinsufficiency": "sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype",
    "triplosensitivity": "dosage sensitivity unlikely",
    "reciprocalOverlap": 0.00147,
    "annotationOverlap": 1
}]

Field	Type	Notes
clingenDosageSensitivityMap	object array
chromosome	string	Ensembl-style chromosome names
begin	integer	1-based position
end	integer	1-based position
haploinsufficiency	string	see possible values below
triplosensitivity	string	(same as haploinsufficiency)
reciprocalOverlap	floating point	Range: 0 - 1. E.g. 0.57 would indicate a 57% reciprocal overlap. Specified up to 5 decimal places (Not reported for Insertions).
annotationOverlap	floating point	Range: 0 - 1. E.g. 0.57 would indicate a 57% reciprocal overlap. Specified up to 5 decimal places (Not reported for Insertions).

haploinsufficiency and triplosensitivity

• no evidence to suggest that dosage sensitivity is associated with clinical phenotype
• little evidence suggesting dosage sensitivity is associated with clinical phenotype
• emerging evidence suggesting dosage sensitivity is associated with clinical phenotype
• sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
• gene associated with autosomal recessive phenotype
• dosage sensitivity unlikely