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: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.060 1.000 6 2004 2014
dbSNP: rs201661522
rs201661522
2 1.000 0.080 7 87539293 missense variant A/G snv 6.4E-05 1.0E-04 0.020 1.000 2 2019 2019
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 1.000 1 2009 2009
dbSNP: rs979090956
rs979090956
5 0.827 0.200 7 87553822 missense variant G/C snv 0.010 1.000 1 2012 2012