Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs57328376
rs57328376
CATSPERB
14 91768695 intron variant A/G snv 0.27
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.700 1.000 1 2019 2019
dbSNP: rs61237505
rs61237505
CATSPERB ; TC2N
14 91779639 intron variant G/C snv 0.14
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs75475571
rs75475571
CATSPERB
14 91635698 non coding transcript exon variant T/G snv 7.6E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019