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: rs104893755
rs104893755
5 0.851 0.200 3 87259959 missense variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs75961395
rs75961395
10 0.763 0.280 7 117509123 missense variant G/A;T snv 4.0E-05 0.010 1.000 1 2004 2004
dbSNP: rs1218653273
rs1218653273
3 0.925 0.160 17 42292005 missense variant C/T snv 4.0E-06 0.010 < 0.001 1 2007 2007
dbSNP: rs137853220
rs137853220
4 0.882 0.200 17 63917909 missense variant G/A snv 4.0E-06 0.010 < 0.001 1 2007 2007
dbSNP: rs557914261
rs557914261
3 0.925 0.160 19 40458393 missense variant G/A snv 2.8E-05 0.010 < 0.001 1 2007 2007
dbSNP: rs6190
rs6190
6 0.827 0.120 5 143400772 missense variant C/G;T snv 4.0E-06; 1.8E-02 0.010 1.000 1 2007 2007
dbSNP: rs1253103806
rs1253103806
3 1.000 0.040 15 98891384 missense variant G/A snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs142920240
rs142920240
5 0.851 0.240 7 117540273 missense variant T/A snv 1.4E-04 7.0E-05 0.010 1.000 1 2012 2012
dbSNP: rs77932196
rs77932196
8 0.790 0.280 7 117540270 missense variant G/A;C;T snv 2.4E-05; 2.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs786205866
rs786205866
7 0.807 0.160 20 63495062 missense variant C/T snv 0.010 1.000 1 2020 2020