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: rs200089714
rs200089714
1 1.000 0.040 11 68906109 stop gained C/G;T snv 3.2E-05 0.700 1.000 1 2003 2003
dbSNP: rs372181708
rs372181708
3 0.882 0.120 11 68933399 stop gained C/G;T snv 4.0E-06; 1.2E-05 0.700 1.000 1 2014 2014
dbSNP: rs375454176
rs375454176
2 1.000 0.040 1 151776497 missense variant C/T snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs137853063
rs137853063
4 0.882 0.080 14 96876033 stop gained C/G;T snv 6.4E-05; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs184887106
rs184887106
1 1.000 0.040 14 96876085 stop gained G/A snv 1.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs201358272
rs201358272
2 0.925 0.080 7 30632247 missense variant C/G;T snv 4.0E-06; 2.0E-04 0.010 1.000 1 2007 2007
dbSNP: rs387906904
rs387906904
5 0.851 0.080 12 109803009 missense variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs876661124
rs876661124
3 0.882 0.160 12 109814507 missense variant G/C snv 0.010 1.000 1 2012 2012