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: rs121918346
rs121918346
5 0.882 0.040 3 16598169 missense variant T/C;G snv 8.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1228406219
rs1228406219
1 1.000 0.040 19 372700 missense variant G/A snv 1.6E-05 3.5E-05 0.010 1.000 1 2006 2006
dbSNP: rs41299088
rs41299088
2 1.000 0.040 X 133026798 missense variant G/A snv 2.6E-02 3.4E-02 0.010 1.000 1 2006 2006
dbSNP: rs61741870
rs61741870
2 1.000 0.040 X 133027727 missense variant A/G snv 2.6E-02 3.4E-02 0.010 1.000 1 2006 2006
dbSNP: rs769167142
rs769167142
1 1.000 0.040 9 128908798 missense variant G/A snv 1.6E-05 2.1E-05 0.010 1.000 1 2018 2018
dbSNP: rs781918360
rs781918360
1 1.000 0.040 X 102326266 synonymous variant C/T snv 2.8E-04 0.010 1.000 1 2008 2008