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: rs104894584
rs104894584
5 0.851 0.120 17 70175553 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs121912516
rs121912516
3 0.882 0.120 7 150951721 missense variant C/G snv 0.010 1.000 1 2008 2008
dbSNP: rs188043534
rs188043534
1 1.000 0.080 12 38316992 missense variant G/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs199472708
rs199472708
4 0.882 0.080 11 2572015 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs199473229
rs199473229
4 0.882 0.120 3 38560361 missense variant A/G snv 0.010 1.000 1 2006 2006
dbSNP: rs199473574
rs199473574
2 0.925 0.120 3 38603951 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs397514616
rs397514616
4 0.851 0.120 3 52452217 missense variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs9388451
rs9388451
3 0.882 0.120 6 125769231 regulatory region variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs1057518920
rs1057518920
DSP
5 0.925 0.080 6 7575386 stop gained C/A snv 0.700 0
dbSNP: rs1554093433
rs1554093433
4 0.925 0.080 5 173232833 stop gained G/T snv 0.700 0
dbSNP: rs190140598
rs190140598
4 0.851 0.120 1 237445488 missense variant C/A;T snv 1.2E-05 0.700 0
dbSNP: rs192749597
rs192749597
3 0.882 0.080 12 2679712 missense variant C/T snv 9.2E-04 3.5E-03 0.010 1.000 1 2018 2018
dbSNP: rs6125
rs6125
2 0.925 0.080 1 169613079 missense variant C/T snv 5.6E-02 5.2E-02 0.010 1.000 1 2010 2010
dbSNP: rs12090554
rs12090554
2 0.925 0.080 1 185583216 intron variant G/A snv 0.15 0.010 1.000 1 2011 2011
dbSNP: rs11720524
rs11720524
3 0.882 0.080 3 38633921 intron variant C/G;T snv 0.34 0.010 1.000 1 2017 2017
dbSNP: rs10757278
rs10757278
44 0.620 0.520 9 22124478 intron variant A/G snv 0.40 0.010 1.000 1 2016 2016
dbSNP: rs2824292
rs2824292
3 0.925 0.080 21 17414857 regulatory region variant G/A snv 0.47 0.010 < 0.001 1 2011 2011
dbSNP: rs6795970
rs6795970
13 0.807 0.200 3 38725184 missense variant A/G snv 0.65 0.70 0.010 1.000 1 2010 2010
dbSNP: rs1353342
rs1353342
2 0.925 0.080 9 76259853 intron variant A/C snv 0.79 0.010 1.000 1 2011 2011