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: rs587778966
rs587778966
3 0.925 0.160 3 36996698 frameshift variant -/C delins 0.720 0.500 2 2006 2009
dbSNP: rs63750206
rs63750206
3 0.807 0.200 3 36996701 missense variant G/A;C;T snv 0.720 0.947 2 1995 2014
dbSNP: rs63750217
rs63750217
4 0.807 0.240 3 37048955 missense variant G/A;C snv 0.720 1.000 2 1975 2017
dbSNP: rs587778914
rs587778914
2 0.925 0.160 3 36996645 missense variant A/C snv 0.710 1.000 1 2012 2012
dbSNP: rs587778937
rs587778937
4 0.882 0.160 3 37040291 missense variant T/C;G snv 0.710 1.000 1 2013 2013
dbSNP: rs63749818
rs63749818
2 0.925 0.160 3 37007002 stop gained C/A;G;T snv 0.710 1.000 1 2012 2012
dbSNP: rs63749939
rs63749939
2 0.851 0.160 3 36996702 missense variant G/A snv 0.710 < 0.001 1 2009 2009
dbSNP: rs63750211
rs63750211
2 0.882 0.160 3 37008904 missense variant A/G snv 0.710 1.000 1 2012 2012
dbSNP: rs63750693
rs63750693
2 0.882 0.160 3 37047652 missense variant T/A;C snv 0.710 1.000 1 2010 2010
dbSNP: rs63750710
rs63750710
1 0.925 0.160 3 37020411 missense variant A/C snv 0.710 1.000 1 1997 1997
dbSNP: rs63750781
rs63750781
1 0.851 0.160 3 37004444 missense variant C/G;T snv 4.0E-06 0.710 1.000 1 1996 2013
dbSNP: rs63750899
rs63750899
4 0.851 0.200 3 37048562 missense variant C/G;T snv 0.710 1.000 1 2004 2004
dbSNP: rs63751194
rs63751194
3 0.851 0.160 3 37017508 missense variant C/A;T snv 4.0E-06 0.710 1.000 1 1999 2014
dbSNP: rs63751608
rs63751608
1 0.925 0.160 3 37042321 missense variant T/C snv 0.710 1.000 1 2005 2005
dbSNP: rs35502531
rs35502531
7 0.827 0.160 3 37047639 missense variant AA/GC mnv 0.030 0.667 3 2006 2012
dbSNP: rs1418586322
rs1418586322
6 0.827 0.160 3 37050495 missense variant C/G snv 4.0E-06 0.020 1.000 2 2004 2007
dbSNP: rs1799977
rs1799977
28 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 0.020 1.000 2 2006 2012
dbSNP: rs63751713
rs63751713
1 0.925 0.160 3 37047531 missense variant C/G;T snv 0.020 0.500 2 1999 2005
dbSNP: rs1060504000
rs1060504000
2 0.925 0.160 3 37025666 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs1260021106
rs1260021106
2 0.925 0.160 3 37025645 missense variant A/G snv 1.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs1392665848
rs1392665848
2 0.925 0.160 3 37025865 missense variant A/G snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs267607713
rs267607713
3 0.882 0.160 3 36996623 splice acceptor variant G/C snv 0.010 1.000 1 2015 2015
dbSNP: rs28930073
rs28930073
5 0.827 0.200 3 37007004 missense variant G/C snv 2.1E-04 1.9E-04 0.010 1.000 1 2006 2006
dbSNP: rs35045067
rs35045067
1 0.925 0.160 3 37048557 missense variant A/C;G snv 4.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs376642306
rs376642306
3 0.925 0.160 3 37028819 missense variant T/C snv 0.010 1.000 1 2005 2005