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: rs1237798930
rs1237798930
TG
1 1.000 0.040 8 132882967 missense variant G/C snv 8.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs201943415
rs201943415
1 1.000 0.040 22 19877146 missense variant G/A snv 5.3E-05 2.1E-05 0.020 1.000 2 1994 1997
dbSNP: rs201391000
rs201391000
2 0.925 0.080 22 19877157 missense variant C/A;T snv 2.3E-04 0.010 < 0.001 1 1994 1994
dbSNP: rs368176907
rs368176907
2 1.000 0.040 22 19877158 missense variant G/A snv 2.8E-05 3.5E-05 0.010 1.000 1 2015 2015
dbSNP: rs1436503012
rs1436503012
1 1.000 0.040 22 19880669 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs374364917
rs374364917
1 1.000 0.040 22 19895535 missense variant C/T snv 6.0E-05 1.3E-04 0.010 1.000 1 1995 1995
dbSNP: rs1431111804
rs1431111804
1 1.000 0.040 22 19898125 missense variant C/A;T snv 0.010 1.000 1 1992 1992
dbSNP: rs201112391
rs201112391
1 1.000 0.040 22 19918887 missense variant T/C snv 0.010 1.000 1 2007 2007
dbSNP: rs121918702
rs121918702
2 0.925 0.040 3 24122894 missense variant A/C snv 0.700 0
dbSNP: rs28933408
rs28933408
3 0.882 0.160 3 24122913 missense variant G/A;C;T snv 8.0E-06 0.060 1.000 6 1994 2019
dbSNP: rs121918701
rs121918701
1 1.000 0.040 3 24122921 missense variant A/T snv 0.700 0
dbSNP: rs121918703
rs121918703
2 0.925 0.040 3 24122934 missense variant A/G snv 0.010 1.000 1 1994 1994
dbSNP: rs121918691
rs121918691
2 0.925 0.040 3 24122946 missense variant T/C snv 0.010 1.000 1 2008 2008
dbSNP: rs1553609185
rs1553609185
2 0.925 0.040 3 24122965 missense variant A/C snv 0.700 0
dbSNP: rs1553609210
rs1553609210
4 0.851 0.040 3 24122984 missense variant C/T snv 0.020 1.000 2 2001 2005
dbSNP: rs121918708
rs121918708
2 0.925 0.040 3 24123122 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs28999970
rs28999970
2 0.925 0.040 3 24127609 missense variant C/A;T snv 0.700 0
dbSNP: rs121918686
rs121918686
2 0.925 0.040 3 24127610 missense variant C/A;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1267634673
rs1267634673
2 0.925 0.040 3 24127628 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs121918697
rs121918697
4 0.882 0.040 3 24127631 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs121918700
rs121918700
1 1.000 0.040 3 24127679 missense variant C/G snv 0.700 0
dbSNP: rs121918696
rs121918696
2 0.925 0.040 3 24127685 missense variant G/A snv 0.010 1.000 1 1997 1997
dbSNP: rs121918690
rs121918690
3 0.882 0.040 3 24127694 missense variant C/T snv 0.010 1.000 1 1997 1997
dbSNP: rs121918695
rs121918695
3 0.882 0.080 3 24127696 missense variant C/T snv 4.0E-06 0.010 < 0.001 1 1994 1994
dbSNP: rs121918699
rs121918699
1 1.000 0.040 3 24127714 missense variant A/G snv 0.710 1.000 1 2010 2010