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: rs12917
rs12917
45 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 0.030 1.000 3 2006 2014
dbSNP: rs16906252
rs16906252
19 0.732 0.200 10 129467281 synonymous variant C/T snv 5.5E-02 5.1E-02 0.030 1.000 3 2009 2016
dbSNP: rs1625649
rs1625649
3 0.882 0.080 10 129466667 upstream gene variant A/C snv 0.61 0.010 1.000 1 2010 2010
dbSNP: rs199734815
rs199734815
3 1.000 0.080 10 129708022 missense variant C/T snv 6.0E-05 0.010 < 0.001 1 2019 2019
dbSNP: rs2308318
rs2308318
2 0.925 0.080 10 129766851 missense variant G/A snv 6.2E-04 1.3E-03 0.010 1.000 1 2009 2009
dbSNP: rs2308321
rs2308321
29 0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02 0.010 1.000 1 2006 2006
dbSNP: rs773919809
rs773919809
13 0.763 0.200 10 129766957 missense variant C/T snv 2.0E-05 0.010 1.000 1 2006 2006