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: rs63751012
rs63751012
5 0.851 0.200 3 36993656 stop gained G/A;C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs1114167435
rs1114167435
1 1.000 0.080 3 37025932 frameshift variant AG/- delins 0.700 0
dbSNP: rs1434898623
rs1434898623
3 1.000 0.080 3 37040295 splice donor variant G/A snv 0.700 0
dbSNP: rs1553651073
rs1553651073
2 0.925 0.160 3 37025834 frameshift variant CA/- delins 0.700 0
dbSNP: rs587779018
rs587779018
2 0.925 0.160 3 37008855 frameshift variant T/-;TT delins 0.700 0
dbSNP: rs587779021
rs587779021
4 0.851 0.200 3 37008905 missense variant G/A;C snv 0.700 0
dbSNP: rs63750206
rs63750206
9 0.807 0.200 3 36996701 missense variant G/A;C;T snv 0.700 0
dbSNP: rs63750547
rs63750547
3 0.925 0.160 3 37020312 stop gained T/C;G snv 4.0E-06 0.700 0
dbSNP: rs63750691
rs63750691
4 0.882 0.160 3 37017521 stop gained C/G snv 0.700 0
dbSNP: rs63750781
rs63750781
6 0.851 0.160 3 37004444 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs876658657
rs876658657
25 0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06 0.040 0.750 4 2008 2017
dbSNP: rs1418586322
rs1418586322
6 0.827 0.160 3 37050495 missense variant C/G snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1799977
rs1799977
28 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 0.010 1.000 1 2009 2009
dbSNP: rs1800734
rs1800734
30 0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22 0.010 < 0.001 1 2017 2017
dbSNP: rs63751701
rs63751701
3 0.925 0.080 3 36993663 stop gained G/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs779795819
rs779795819
2 0.925 0.080 3 37048526 frameshift variant -/ATTG delins 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs876658198
rs876658198
2 0.925 0.080 3 37028855 missense variant G/A snv 0.010 1.000 1 2015 2015