Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs5743890
rs5743890
4 0.925 0.040 11 1304599 intron variant T/C snv 9.7E-02 0.830 1.000 3 2013 2019
dbSNP: rs3750920
rs3750920
6 0.807 0.120 11 1288726 synonymous variant C/T snv 0.40 0.38 0.010 1.000 1 2015 2015