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: rs1131691564
rs1131691564
2 0.925 0.160 X 30308656 stop gained C/T snv 0.700 0
dbSNP: rs1324519932
rs1324519932
2 0.925 0.160 X 30308445 stop gained C/A;G snv 1.3E-05 9.5E-06 0.700 0
dbSNP: rs1555973010
rs1555973010
2 0.925 0.160 X 30308463 stop gained G/A snv 0.700 0
dbSNP: rs1555973115
rs1555973115
2 0.925 0.160 X 30308812 frameshift variant TT/-;T delins 0.700 0
dbSNP: rs1555973131
rs1555973131
2 0.925 0.160 X 30308848 stop gained C/T snv 0.700 0
dbSNP: rs767828388
rs767828388
2 0.925 0.160 X 30308836 stop gained G/A;C snv 6.1E-06 0.700 0
dbSNP: rs3132468
rs3132468
5 0.827 0.240 6 31507709 intron variant C/T snv 0.77 0.020 0.500 2 2013 2014
dbSNP: rs1143627
rs1143627
47 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 0.010 1.000 1 2014 2014
dbSNP: rs1800875
rs1800875
12 0.742 0.360 14 24510132 upstream gene variant C/T snv 0.41 0.010 < 0.001 1 2015 2015
dbSNP: rs1801274
rs1801274
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.010 1.000 1 2015 2015
dbSNP: rs3740360
rs3740360
7 0.827 0.240 10 94265734 intron variant A/C snv 9.7E-02 8.4E-02 0.010 < 0.001 1 2013 2013
dbSNP: rs3765524
rs3765524
17 0.724 0.320 10 94298541 missense variant C/T snv 0.27 0.31 0.010 1.000 1 2014 2014