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: rs74315329
rs74315329
15 0.732 0.240 1 171636338 stop gained G/A snv 1.1E-03 8.7E-04 0.800 0.964 28 1997 2019
dbSNP: rs878854408
rs878854408
1 1.000 0.040 1 171636329 missense variant A/G snv 0.700 0
dbSNP: rs566289099
rs566289099
6 0.807 0.080 1 171636310 missense variant G/A snv 2.0E-05 3.5E-05 0.060 1.000 6 2003 2012
dbSNP: rs74315330
rs74315330
9 0.776 0.080 1 171636331 missense variant G/A snv 0.050 1.000 5 2002 2011
dbSNP: rs137853277
rs137853277
3 0.925 0.040 1 171636382 missense variant G/A snv 7.0E-04 3.1E-04 0.040 1.000 4 2000 2012
dbSNP: rs74315337
rs74315337
2 0.925 0.040 1 171652476 stop gained G/A;C;T snv 7.2E-04; 4.0E-06; 4.0E-06 0.040 1.000 4 2000 2012
dbSNP: rs2234926
rs2234926
3 0.882 0.040 1 171652385 missense variant C/T snv 0.15 0.11 0.030 0.667 3 2001 2008
dbSNP: rs74315328
rs74315328
6 0.807 0.120 1 171636131 missense variant A/G snv 0.030 1.000 3 2011 2019
dbSNP: rs74315332
rs74315332
3 0.882 0.040 1 171636000 missense variant G/T snv 0.030 1.000 3 1998 2011
dbSNP: rs74315339
rs74315339
6 0.807 0.120 1 171652468 missense variant C/A snv 9.8E-04 1.3E-04 0.030 1.000 3 2005 2012
dbSNP: rs199752860
rs199752860
2 0.925 0.040 1 171652578 missense variant C/G snv 6.9E-04 1.5E-04 0.020 1.000 2 2000 2002
dbSNP: rs2234927
rs2234927
4 0.851 0.040 1 171638703 missense variant G/A;C snv 4.0E-06; 7.6E-04 0.020 1.000 2 2000 2001
dbSNP: rs74315334
rs74315334
4 0.851 0.040 1 171636341 missense variant C/T snv 0.020 1.000 2 2000 2003
dbSNP: rs74315336
rs74315336
4 0.851 0.040 1 171636173 missense variant T/C snv 0.020 1.000 2 2003 2007
dbSNP: rs74315338
rs74315338
3 0.882 0.040 1 171636143 missense variant A/G snv 0.020 1.000 2 2003 2018
dbSNP: rs754237376
rs754237376
3 0.882 0.080 1 171636161 missense variant C/T snv 4.8E-05 2.1E-05 0.020 1.000 2 2007 2015
dbSNP: rs121909194
rs121909194
3 0.882 0.040 1 171636302 missense variant C/G snv 0.010 1.000 1 2007 2007
dbSNP: rs1270841723
rs1270841723
1 1.000 0.040 1 171636185 missense variant T/C snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs143413116
rs143413116
1 1.000 0.040 1 171652341 stop gained G/A snv 3.2E-05 0.010 1.000 1 2000 2000
dbSNP: rs199746824
rs199746824
6 0.807 0.040 1 171652139 missense variant C/G;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 2001 2001
dbSNP: rs200547613
rs200547613
2 0.925 0.040 1 171638675 missense variant C/T snv 4.8E-05 1.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs554235897
rs554235897
2 0.925 0.040 1 171636028 missense variant T/C snv 2.8E-05 0.010 1.000 1 2002 2002
dbSNP: rs74315331
rs74315331
3 0.882 0.040 1 171636010 missense variant A/C;T snv 0.010 1.000 1 2004 2004
dbSNP: rs74315341
rs74315341
4 0.851 0.040 1 171636686 missense variant C/T snv 0.010 1.000 1 2000 2000
dbSNP: rs748621461
rs748621461
2 0.925 0.040 1 171636542 missense variant C/T snv 3.2E-05 2.1E-05 0.010 1.000 1 2002 2002