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: rs61816761
rs61816761
43 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.700 1.000 4 2006 2006
dbSNP: rs1347671835
rs1347671835
5 0.827 0.160 16 88639888 missense variant C/A;G snv 4.3E-06 0.010 1.000 1 2019 2019
dbSNP: rs179363865
rs179363865
3 0.882 0.080 X 154563613 missense variant G/C snv 0.010 1.000 1 2007 2007
dbSNP: rs281875214
rs281875214
7 0.790 0.160 17 80183976 missense variant A/C snv 0.010 1.000 1 2019 2019
dbSNP: rs33980500
rs33980500
14 0.742 0.200 6 111592059 missense variant C/T snv 8.6E-02 9.7E-02 0.010 1.000 1 2013 2013
dbSNP: rs9267502
rs9267502
1 1.000 0.040 6 31585417 upstream gene variant G/A snv 7.6E-02 0.010 1.000 1 2014 2014