TBPL2, TATA-box binding protein like 2, 387332

N. diseases: 31; N. variants: 27
Disease: Ovarian Failure, Premature ×
Source: ALL
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: rs8019270
rs8019270 		1.000 0.080 14 55440454 missense variant C/A;G;T snv 4.0E-06; 0.63; 4.0E-06
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2016 2016