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: rs2515629
rs2515629
3 1.000 0.040 9 104832083 intron variant A/G snv 0.16 0.800 1.000 1 2011 2019
dbSNP: rs2066718
rs2066718
2 0.882 0.120 9 104826974 missense variant C/G;T snv 4.3E-04; 5.4E-02 0.700 1.000 1 2012 2012
dbSNP: rs3780543
rs3780543
2 9 104826291 intron variant A/G snv 0.23 0.700 1.000 1 2012 2012
dbSNP: rs2066714
rs2066714
2 0.742 0.240 9 104824472 missense variant T/C snv 0.21 0.25 0.700 1.000 1 2012 2012