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: rs118192193
rs118192193
2 0.925 0.080 20 63446778 missense variant T/C snv 0.010 1.000 1 2008 2008
dbSNP: rs118192199
rs118192199
2 0.925 0.080 20 63444762 missense variant G/A;C snv 4.2E-06 0.010 1.000 1 2007 2007
dbSNP: rs118192219
rs118192219
2 0.925 0.080 20 63433851 missense variant G/T snv 0.010 1.000 1 2009 2009
dbSNP: rs118192236
rs118192236
4 0.851 0.080 20 63413472 stop gained G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs118192249
rs118192249
3 0.882 0.080 8 132175461 missense variant A/G snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1215394494
rs1215394494
1 1.000 0.080 20 63407152 missense variant G/A snv 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs28933401
rs28933401
3 0.882 0.120 1 160135246 missense variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs28939683
rs28939683
3 0.925 0.080 20 63439674 missense variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs28939684
rs28939684
2 0.925 0.080 20 63444709 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs74315390
rs74315390
8 0.790 0.120 20 63439609 missense variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs74315391
rs74315391
6 0.827 0.120 20 63444730 missense variant G/A snv 0.010 1.000 1 2001 2001
dbSNP: rs768048563
rs768048563
2 0.925 0.120 19 13298829 missense variant C/T snv 2.6E-05 0.010 1.000 1 2003 2003
dbSNP: rs794727134
rs794727134
3 0.925 0.080 20 63414092 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019