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: rs2020912
rs2020912
7 0.807 0.480 2 47800616 missense variant T/C;G snv 5.1E-03 0.700 1.000 12 1997 2017
dbSNP: rs35552856
rs35552856
1 1.000 0.160 2 47800166 missense variant A/C;G snv 4.0E-06; 1.2E-05 0.700 1.000 12 1997 2017
dbSNP: rs63749973
rs63749973
3 0.925 0.160 2 47799679 stop gained G/A;T snv 2.4E-04 2.8E-05 0.700 1.000 12 1997 2017
dbSNP: rs63750143
rs63750143
1 1.000 0.160 2 47791049 missense variant G/A;T snv 0.700 1.000 12 1997 2017
dbSNP: rs63750370
rs63750370
1 1.000 0.160 2 47806231 missense variant C/A;T snv 4.0E-06; 7.6E-05 0.700 1.000 12 1997 2017
dbSNP: rs267608122
rs267608122
4 0.925 0.160 2 47806651 missense variant G/A;C snv 0.700 1.000 10 1994 2016
dbSNP: rs201735525
rs201735525
1 1.000 0.160 2 47799813 missense variant G/A;C;T snv 8.0E-06 0.700 1.000 9 1997 2012
dbSNP: rs2020908
rs2020908
1 1.000 0.160 2 47799169 missense variant C/G snv 5.4E-03 5.5E-03 0.700 1.000 9 1997 2012
dbSNP: rs267608026
rs267608026
1 1.000 0.160 2 47783306 missense variant G/T snv 1.4E-04 2.2E-04 0.700 1.000 9 1997 2012
dbSNP: rs267608054
rs267608054
1 1.000 0.160 2 47801059 missense variant G/C;T snv 0.700 1.000 9 1997 2012
dbSNP: rs267608140
rs267608140
2 0.925 0.160 2 47806838 missense variant T/A;C snv 0.700 1.000 9 1997 2012
dbSNP: rs587779323
rs587779323
1 1.000 0.160 2 47798960 missense variant C/T snv 0.700 1.000 9 1997 2012
dbSNP: rs63750138
rs63750138
6 0.851 0.160 2 47800297 missense variant C/A;G;T snv 2.0E-05; 8.0E-06 0.700 1.000 9 1997 2012
dbSNP: rs63750252
rs63750252
1 1.000 0.160 2 47804959 missense variant A/G;T snv 1.0E-03 0.700 1.000 9 1997 2012
dbSNP: rs63750253
rs63750253
2 0.925 0.160 2 47803531 missense variant G/A snv 4.8E-05 2.8E-05 0.700 1.000 9 1997 2012
dbSNP: rs63750389
rs63750389
2 0.925 0.160 2 47800532 missense variant A/G snv 8.0E-06 0.700 1.000 9 1997 2012
dbSNP: rs63750462
rs63750462
1 1.000 0.160 2 47799851 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 9 1997 2012
dbSNP: rs63750664
rs63750664
3 0.882 0.200 2 47783292 missense variant C/A;T snv 4.1E-06; 9.4E-05 0.700 1.000 9 1997 2012
dbSNP: rs587779227
rs587779227
4 0.925 0.160 2 47800040 missense variant G/A snv 1.4E-05 0.700 1.000 8 2008 2017
dbSNP: rs63750741
rs63750741
8 0.827 0.200 2 47799329 missense variant T/C snv 1.2E-05 0.700 1.000 7 2004 2016
dbSNP: rs267608121
rs267608121
4 0.925 0.160 2 47806630 frameshift variant -/GTCA delins 0.700 1.000 6 2003 2015
dbSNP: rs267608058
rs267608058
6 0.851 0.200 2 47800130 frameshift variant TCAG/- delins 7.0E-06 0.700 1.000 5 1999 2012
dbSNP: rs193922343
rs193922343
4 0.925 0.160 2 47806254 frameshift variant AGAA/-;AGAAAAGAA;AGAAAGAA delins 0.700 1.000 3 2008 2015
dbSNP: rs267608094
rs267608094
4 0.925 0.160 2 47806641 stop gained C/A;T snv 4.1E-06; 4.1E-06 0.700 1.000 3 2006 2011
dbSNP: rs267608120
rs267608120
4 0.925 0.160 2 47806606 frameshift variant CAAG/- delins 0.700 1.000 3 2003 2011