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: rs2842700
rs2842700 		1 207108804 intron variant C/A;G snv 0.12
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.700 1.000 2 2019 2019
dbSNP: rs11120218
rs11120218 		1 207105106 intron variant G/A snv 0.23
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs12065624
rs12065624 		1 207107394 intron variant A/T snv 0.10
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs17020993
rs17020993 		1 207115047 intron variant A/G snv 0.26
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs4844573
rs4844573 		1 207131555 missense variant T/C snv 0.39 0.48
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs45574833
rs45574833 		1.000 0.120 1 207126725 missense variant G/A;C snv 1.4E-02 1.4E-02
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases 0.020 0.500 2 2008 2009