Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137853223
rs137853223
0.851 0.160 17 63917337 missense variant C/T snv 7.0E-06
CUI: C0013338
Disease: Pituitary dwarfism
Pituitary dwarfism
Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.030 1.000 3 2001 2020
dbSNP: rs763850922
rs763850922
0.925 0.120 17 63917760 splice region variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C0013338
Disease: Pituitary dwarfism
Pituitary dwarfism
Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2007 2007