RFX2, regulatory factor X2, 5990

N. diseases: 7; N. variants: 3
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: rs505401
rs505401 		19 6011130 intron variant A/T snv 0.26
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs748493309
rs748493309 		1.000 0.080 19 6040174 missense variant C/T snv 1.6E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs2288846
rs2288846 		1.000 0.040 19 6042048 missense variant C/T snv 0.25 0.22
CUI: C0021364
Disease: Male infertility
Male infertility 		Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2288846
rs2288846 		1.000 0.040 19 6042048 missense variant C/T snv 0.25 0.22
CUI: C0004509
Disease: Azoospermia
Azoospermia 		Male Urogenital Diseases 0.010 1.000 1 2018 2018