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: rs17215500
rs17215500
7 0.807 0.240 11 2768881 stop gained C/G;T snv 1.0E-04 0.700 1.000 9 1999 2015
dbSNP: rs199472696
rs199472696
4 0.851 0.120 11 2570670 missense variant C/T snv 4.0E-06 1.4E-05 0.700 1.000 6 1997 2013
dbSNP: rs1060502607
rs1060502607
1 1.000 0.120 19 46608846 missense variant G/C snv 0.700 1.000 5 2013 2016
dbSNP: rs137854601
rs137854601
10 0.776 0.120 3 38551022 stop gained C/A;T snv 4.0E-06 0.700 1.000 5 1999 2011
dbSNP: rs397508111
rs397508111
3 0.882 0.120 11 2528023 splice region variant G/A;C snv 1.2E-05 0.700 1.000 4 1999 2012
dbSNP: rs397508112
rs397508112
3 0.882 0.120 11 2570638 frameshift variant T/- del 0.700 1.000 3 2004 2009
dbSNP: rs786204395
rs786204395
1 1.000 0.120 12 32796150 frameshift variant GGTGTT/TTTC delins 0.700 1.000 3 2010 2013
dbSNP: rs199473073
rs199473073
1 1.000 0.120 3 38613757 missense variant A/G snv 7.0E-06 0.700 1.000 1 2010 2010
dbSNP: rs794728565
rs794728565
3 0.882 0.120 11 2527943 frameshift variant G/- delins 0.700 1.000 1 2009 2009
dbSNP: rs1060502608
rs1060502608
1 1.000 0.120 19 46608584 missense variant A/C snv 0.700 0
dbSNP: rs1553431711
rs1553431711
1 1.000 0.120 2 47161816 missense variant T/A snv 0.700 0
dbSNP: rs1553698563
rs1553698563
1 1.000 0.120 3 38575452 splice acceptor variant C/G snv 0.700 0
dbSNP: rs1555814427
rs1555814427
1 1.000 0.120 19 46609125 missense variant A/G snv 0.700 0
dbSNP: rs786204778
rs786204778
2 0.925 0.120 11 2572891 frameshift variant T/- del 4.0E-06 0.700 0
dbSNP: rs794728865
rs794728865
2 0.925 0.120 3 38585903 stop gained G/A snv 0.700 0
dbSNP: rs199472910
rs199472910
5 0.827 0.120 7 150952508 missense variant G/A snv 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs28928905
rs28928905
5 0.851 0.120 7 150952514 missense variant C/G;T snv 0.010 1.000 1 2007 2007