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: rs864622007
rs864622007
AR
5 0.882 0.200 X 67711621 missense variant T/A snv 0.830 1.000 3 2002 2010
dbSNP: rs137852578
rs137852578
AR
10 0.827 0.080 X 67723710 missense variant A/G snv 0.800 1.000 14 2002 2015
dbSNP: rs137852564
rs137852564
AR
5 0.827 0.240 X 67722976 missense variant G/A;T snv 0.800 0
dbSNP: rs137852593
rs137852593
AR
8 0.827 0.160 X 67717484 missense variant G/A;C;T snv 2.2E-05; 1.1E-05; 9.1E-04 0.740 1.000 4 2000 2004
dbSNP: rs137852581
rs137852581
AR
5 0.882 0.080 X 67723701 missense variant C/T snv 0.720 1.000 2 1997 2007
dbSNP: rs137852571
rs137852571
AR
3 0.882 0.080 X 67717495 missense variant G/A snv 7.7E-05 1.9E-05 0.710 1.000 1 2003 2003
dbSNP: rs1340026226
rs1340026226
AR
3 1.000 0.080 X 67711662 missense variant G/A snv 9.5E-06 0.700 0
dbSNP: rs137852567
rs137852567
AR
3 0.882 0.200 X 67717595 missense variant A/G snv 0.700 0
dbSNP: rs137852580
rs137852580
AR
2 0.925 0.080 X 67723711 missense variant C/G;T snv 0.700 0
dbSNP: rs137852582
rs137852582
AR
2 0.925 0.080 X 67723786 missense variant A/G snv 0.700 0
dbSNP: rs137852583
rs137852583
AR
2 0.925 0.080 X 67711680 missense variant G/A snv 0.700 0
dbSNP: rs137852584
rs137852584
AR
2 0.925 0.080 X 67711459 missense variant G/A snv 0.700 0
dbSNP: rs137852591
rs137852591
AR
4 0.851 0.200 X 67721909 missense variant C/G snv 1.4E-03 1.4E-03 0.700 0
dbSNP: rs138454018
rs138454018
AR
1 1.000 0.080 X 67546171 missense variant C/A;T snv 4.4E-05; 4.9E-05 0.700 0
dbSNP: rs78686797
rs78686797
AR
1 1.000 0.080 X 67545316 missense variant T/A snv 1.1E-03 0.700 0
dbSNP: rs868669253
rs868669253
AR
1 1.000 0.080 X 67711405 missense variant G/A;T snv 0.700 0
dbSNP: rs1034866440
rs1034866440
AR
4 0.851 0.160 X 67643401 missense variant G/A snv 5.7E-06 0.040 0.750 4 2002 2011
dbSNP: rs137852569
rs137852569
AR
10 0.752 0.320 X 67686030 missense variant G/A snv 9.4E-06 0.040 0.750 4 2002 2011
dbSNP: rs1057519864
rs1057519864
AR
8 0.851 0.080 X 67723707 missense variant T/C snv 0.020 1.000 2 2013 2015
dbSNP: rs976306779
rs976306779
AR
8 0.851 0.080 X 67545492 missense variant C/A;T snv 6.6E-06 0.020 1.000 2 2005 2008
dbSNP: rs139756052
rs139756052
AR
2 0.925 0.080 X 67643314 missense variant A/T snv 1.3E-04 5.6E-04 0.010 1.000 1 2010 2010
dbSNP: rs6152
rs6152
AR
9 0.763 0.240 X 67545785 synonymous variant G/A snv 0.15 0.28 0.010 1.000 1 2015 2015
dbSNP: rs6624304
rs6624304
AR
3 0.882 0.160 X 67655914 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs777787518
rs777787518
AR
2 0.925 0.080 X 67545298 missense variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs968098233
rs968098233
AR
3 0.882 0.200 X 67546162 missense variant T/C snv 0.010 1.000 1 2005 2005