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: rs6065
rs6065
0.851 0.280 17 4933086 missense variant C/T snv 9.8E-02 0.13
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement
0.800 1.000 2 2010 2011
dbSNP: rs2243086
rs2243086
1.000 0.040 17 4930914 intron variant G/T snv 0.20
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement
0.700 1.000 1 2018 2018
dbSNP: rs553749201
rs553749201
17 4933900 synonymous variant C/A snv
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement
0.700 1.000 1 2016 2016