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: rs4981022
rs4981022 		12 103756096 intron variant G/A snv 0.69
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 3 2010 2019
dbSNP: rs116878472
rs116878472 		12 103817214 intron variant T/C snv 1.9E-02
CUI: C1720164
Disease: Central corneal thickness
Central corneal thickness 		0.700 1.000 1 2018 2018
dbSNP: rs3751198
rs3751198 		12 103753429 intron variant A/G snv 0.59
CUI: C2825857
Disease: Factor VIII measurement
Factor VIII measurement 		0.700 1.000 1 2019 2019
dbSNP: rs4981022
rs4981022 		12 103756096 intron variant G/A snv 0.69
CUI: C2825857
Disease: Factor VIII measurement
Factor VIII measurement 		0.700 1.000 1 2019 2019
dbSNP: rs141041254
rs141041254 		1.000 0.080 12 103759154 missense variant G/A snv 5.2E-04 5.2E-04
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018