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: rs199472990
rs199472990
3 0.882 0.120 7 150950312 missense variant G/A snv 7.0E-06 0.700 1.000 9 2000 2018
dbSNP: rs199473394
rs199473394
2 0.925 0.120 11 2570685 missense variant G/A snv 7.0E-06 0.700 1.000 9 2000 2018
dbSNP: rs199473411
rs199473411
3 0.882 0.120 11 2585275 missense variant C/A;T snv 0.700 1.000 9 1997 2014
dbSNP: rs397508118
rs397508118
4 0.851 0.120 11 2570720 frameshift variant GCGCT/- delins 1.4E-05 0.700 1.000 6 1999 2015
dbSNP: rs12720459
rs12720459
7 0.807 0.160 11 2583535 missense variant C/A;G;T snv 0.040 1.000 4 2005 2015
dbSNP: rs794728568
rs794728568
2 0.925 0.120 11 2570707 missense variant G/A;T snv 0.700 1.000 3 2016 2016
dbSNP: rs397508091
rs397508091
2 0.925 0.120 11 2662080 stop gained C/T snv 0.700 1.000 2 2009 2009
dbSNP: rs397508120
rs397508120
3 0.882 0.120 11 2570734 frameshift variant G/- delins 0.700 1.000 2 2002 2009
dbSNP: rs121434386
rs121434386
2 0.925 0.120 11 118141265 missense variant G/A snv 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs16847548
rs16847548
8 0.807 0.120 1 162065484 upstream gene variant T/C snv 0.22 0.010 < 0.001 1 2013 2013
dbSNP: rs199472936
rs199472936
5 0.882 0.120 7 150951592 missense variant C/A;T snv 0.010 1.000 1 1999 1999
dbSNP: rs199472944
rs199472944
3 0.882 0.120 7 150951552 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs199472960
rs199472960
1 1.000 0.120 7 150951496 missense variant T/C snv 0.010 1.000 1 2008 2008
dbSNP: rs199473051
rs199473051
2 0.925 0.120 3 38633058 missense variant C/T snv 0.010 < 0.001 1 2013 2013
dbSNP: rs199473103
rs199473103
3 0.925 0.120 3 38606102 missense variant A/G snv 0.010 1.000 1 2008 2008
dbSNP: rs199473225
rs199473225
6 0.851 0.120 3 38560397 missense variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs199473317
rs199473317
3 0.882 0.120 3 38551003 missense variant T/C snv 0.010 1.000 1 2000 2000
dbSNP: rs199473447
rs199473447
1 1.000 0.120 11 2445412 missense variant A/T snv 0.010 1.000 1 2006 2006
dbSNP: rs199473507
rs199473507
2 0.925 0.120 7 150952723 missense variant T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs199473522
rs199473522
3 0.882 0.120 7 150951583 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs199473631
rs199473631
3 0.925 0.120 3 38551085 missense variant C/T snv 0.010 1.000 1 2004 2004
dbSNP: rs267607277
rs267607277
6 0.807 0.120 14 90404386 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs398124647
rs398124647
6 0.807 0.120 2 47161851 missense variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs398124650
rs398124650
3 0.882 0.120 2 47161744 missense variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs4657139
rs4657139
3 0.925 0.120 1 162060117 intergenic variant A/T snv 0.48 0.010 < 0.001 1 2013 2013