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: rs121908568
rs121908568
9 0.807 0.160 17 65536495 stop gained G/A snv 0.020 1.000 2 2004 2016
dbSNP: rs515726227
rs515726227
2 0.925 0.080 4 4863139 frameshift variant -/TA delins 0.710 1.000 2 1996 2014
dbSNP: rs730882193
rs730882193
6 0.807 0.200 17 65536472 stop gained C/G;T snv 0.020 1.000 2 2011 2015
dbSNP: rs876657641
rs876657641
EDA
1 1.000 0.080 X 70033470 missense variant G/A;C snv 0.700 1.000 2 2009 2014
dbSNP: rs121909637
rs121909637
3 0.882 0.240 8 38418249 missense variant C/A;T snv 1.2E-05; 2.0E-05 0.010 1.000 1 2019 2019
dbSNP: rs1270965996
rs1270965996
1 1.000 0.080 17 50195463 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs12881240
rs12881240
1 1.000 0.080 14 36666547 missense variant C/G;T snv 4.9E-06; 0.18 0.010 1.000 1 2014 2014
dbSNP: rs1392844787
rs1392844787
2 0.925 0.080 19 37413765 missense variant T/C;G snv 4.0E-06; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1555316704
rs1555316704
1 1.000 0.080 14 36663072 stop gained C/A snv 0.700 1.000 1 2012 2012
dbSNP: rs2034604
rs2034604
8 0.776 0.160 2 143201176 intron variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs28933971
rs28933971
3 0.882 0.080 14 36662975 missense variant G/A;C snv 0.010 1.000 1 2004 2004
dbSNP: rs34165410
rs34165410
2 0.925 0.080 4 4860247 synonymous variant C/G;T snv 4.8E-06; 6.8E-02 0.010 1.000 1 2013 2013
dbSNP: rs35822372
rs35822372
8 0.776 0.160 2 88438931 intergenic variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs35956082
rs35956082
8 0.776 0.160 3 71414748 intron variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs374534090
rs374534090
2 0.925 0.080 14 36663506 missense variant G/A;C;T snv 4.2E-06; 4.2E-06 0.010 1.000 1 2014 2014
dbSNP: rs374910216
rs374910216
3 0.882 0.080 2 218882358 missense variant G/A snv 2.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs3764897
rs3764897
1 1.000 0.080 17 4819581 missense variant G/A;C snv 0.15; 4.1E-06 0.010 1.000 1 2011 2011
dbSNP: rs377467108
rs377467108
3 0.882 0.120 7 148827254 missense variant C/A;T snv 6.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs6445606
rs6445606
1 1.000 0.080 3 53822023 intron variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs67682641
rs67682641
6 0.807 0.240 17 50194375 missense variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs67707918
rs67707918
2 0.925 0.080 7 94410501 missense variant G/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs752881223
rs752881223
2 0.925 0.080 17 65558307 missense variant A/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs754287422
rs754287422
2 0.925 0.080 14 36663308 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs758468472
rs758468472
8 0.776 0.160 17 67718094 splice region variant G/T snv 0.700 1.000 1 2018 2018
dbSNP: rs776377834
rs776377834
1 1.000 0.080 14 36676436 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2009 2009