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: rs119103213
rs119103213
1 1.000 0.120 3 183041679 missense variant T/G snv 1.3E-04 7.7E-05 0.800 1.000 9 2001 2015
dbSNP: rs119103212
rs119103212
2 0.925 0.120 3 183045522 missense variant A/C snv 1.6E-05 5.6E-05 0.800 1.000 3 2001 2015
dbSNP: rs1057520695
rs1057520695
1 1.000 0.120 3 183092514 missense variant G/C snv 0.700 1.000 11 2001 2016
dbSNP: rs186209189
rs186209189
1 1.000 0.120 3 183071223 missense variant C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 11 2001 2016
dbSNP: rs199517715
rs199517715
1 1.000 0.120 3 183092545 missense variant C/T snv 4.0E-05 3.5E-05 0.700 1.000 11 2001 2016
dbSNP: rs201041864
rs201041864
1 1.000 0.120 3 183057312 missense variant G/A snv 1.4E-04 1.0E-04 0.700 1.000 11 2001 2016
dbSNP: rs201386261
rs201386261
1 1.000 0.120 3 183041738 missense variant C/T snv 2.4E-05 0.700 1.000 11 2001 2016
dbSNP: rs202197951
rs202197951
1 1.000 0.120 3 183072469 missense variant C/T snv 1.2E-05 2.1E-05 0.700 1.000 11 2001 2016
dbSNP: rs376289130
rs376289130
1 1.000 0.120 3 183039101 missense variant A/C;G snv 4.0E-05 1.1E-04 0.700 1.000 11 2001 2016
dbSNP: rs398124352
rs398124352
1 1.000 0.120 3 183039088 missense variant C/A;G;T snv 3.2E-05; 4.0E-06; 8.0E-06 0.700 1.000 11 2001 2016
dbSNP: rs746500530
rs746500530
1 1.000 0.120 3 183057321 missense variant T/C snv 2.5E-05 1.4E-05 0.700 1.000 11 2001 2016
dbSNP: rs754437245
rs754437245
1 1.000 0.120 3 183057342 missense variant C/T snv 1.6E-05 7.0E-06 0.700 1.000 11 2001 2016
dbSNP: rs755328329
rs755328329
1 1.000 0.120 3 183041719 missense variant T/G snv 4.0E-06 0.700 1.000 11 2001 2016
dbSNP: rs768785753
rs768785753
1 1.000 0.120 3 183039072 missense variant C/T snv 2.8E-05 3.5E-05 0.700 1.000 11 2001 2016
dbSNP: rs772395858
rs772395858
1 1.000 0.120 3 183071122 splice acceptor variant T/C snv 8.0E-06 0.700 1.000 4 2001 2016
dbSNP: rs776641008
rs776641008
1 1.000 0.120 3 183020102 splice donor variant TCATTCTACAGATGTCATGTGATTACCTTTTCA/- delins 0.700 1.000 3 2001 2012
dbSNP: rs727504002
rs727504002
1 1.000 0.120 3 183037286 frameshift variant C/- del 1.2E-05 2.8E-05 0.700 1.000 2 2005 2012
dbSNP: rs762463137
rs762463137
1 1.000 0.120 3 183041570 frameshift variant -/C delins 4.0E-05; 8.0E-06 2.1E-05 0.700 1.000 2 2001 2005
dbSNP: rs1394547323
rs1394547323
1 1.000 0.120 3 183033992 frameshift variant -/T delins 1.4E-05 0.700 1.000 1 2013 2013
dbSNP: rs1484347924
rs1484347924
1 1.000 0.120 3 183041609 stop gained G/A snv 4.0E-06 7.0E-06 0.700 1.000 1 2006 2006
dbSNP: rs544349961
rs544349961
1 1.000 0.120 3 183041720 stop gained G/A snv 2.4E-05 4.9E-05 0.700 1.000 1 2012 2012
dbSNP: rs905321122
rs905321122
1 1.000 0.120 3 183020177 stop gained C/A;G snv 4.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs119103214
rs119103214
1 1.000 0.120 3 183037218 missense variant C/G snv 0.700 0
dbSNP: rs119103215
rs119103215
1 1.000 0.120 3 183039093 missense variant A/G snv 0.700 0
dbSNP: rs119103216
rs119103216
1 1.000 0.120 3 183034068 missense variant G/A snv 0.700 0