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: rs11571833
rs11571833
43 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.010 1.000 1 2005 2005
dbSNP: rs1176026649
rs1176026649
4 0.851 0.120 4 168921582 missense variant C/T snv 7.2E-06 0.010 1.000 1 2007 2007
dbSNP: rs1187393388
rs1187393388
1 1.000 0.120 2 47800567 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs17107315
rs17107315
40 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.010 1.000 1 2004 2004
dbSNP: rs4503083
rs4503083
2 0.925 0.120 8 40015416 stop gained T/A snv 0.23 0.19 0.010 1.000 1 2018 2018
dbSNP: rs486907
rs486907
32 0.667 0.360 1 182585422 missense variant C/T snv 0.31 0.28 0.010 1.000 1 2005 2005
dbSNP: rs587779930
rs587779930
1 1.000 0.120 2 47801083 missense variant C/G;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 2020 2020
dbSNP: rs63751127
rs63751127
5 0.882 0.200 2 47800177 stop gained C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs74315364
rs74315364
13 0.732 0.200 1 182586014 stop gained C/A snv 3.6E-03; 4.0E-06 3.3E-03 0.010 1.000 1 2005 2005