BRCA1, BRCA1 DNA repair associated, 672

N. diseases: 747; N. variants: 2600
Disease: Ovarian Carcinoma ×
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: rs1799950
rs1799950 		0.752 0.240 17 43094464 missense variant T/C snv 4.7E-02 4.6E-02
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2018 2018