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: rs1555910162
rs1555910162
5 0.925 0.080 22 50721469 frameshift variant -/C delins 0.700 0
dbSNP: rs2789588
rs2789588
1 6 72433995 intergenic variant A/C snv 0.26 0.700 1.000 1 2014 2014
dbSNP: rs951436
rs951436
3 0.925 0.040 1 163063552 regulatory region variant A/C snv 0.42 0.010 1.000 1 2007 2007
dbSNP: rs17693963
rs17693963
5 0.882 0.040 6 27742386 upstream gene variant A/C;G snv 0.700 1.000 1 2014 2014
dbSNP: rs9960767
rs9960767
3 0.925 0.040 18 55487771 intron variant A/C;G snv 0.010 1.000 1 2012 2012
dbSNP: rs2509843
rs2509843
2 11 98254676 intergenic variant A/C;G;T snv 0.800 1.000 1 2010 2010
dbSNP: rs1344706
rs1344706
21 0.701 0.160 2 184913701 intron variant A/C;T snv 0.100 1.000 10 2011 2018
dbSNP: rs2228145
rs2228145
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.010 < 0.001 1 2018 2018
dbSNP: rs1137101
rs1137101
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.020 1.000 2 2011 2019
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 1998 2006
dbSNP: rs4309482
rs4309482
3 0.925 0.040 18 55083238 intergenic variant A/G snv 0.39 0.710 1.000 2 2012 2014
dbSNP: rs11740562
rs11740562
2 5 157515277 intron variant A/G snv 7.1E-02 0.800 1.000 1 2010 2010
dbSNP: rs12745968
rs12745968
2 1 92936280 intron variant A/G snv 0.36 0.800 1.000 1 2010 2010
dbSNP: rs12836771
rs12836771
4 0.882 0.080 X 114650913 intron variant A/G snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2005 2005
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.010 1.000 1 2004 2004
dbSNP: rs1799990
rs1799990
23 0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33 0.010 1.000 1 2007 2007
dbSNP: rs187269
rs187269
6 0.827 0.160 5 161329618 3 prime UTR variant A/G snv 0.34 0.010 1.000 1 2013 2013
dbSNP: rs2007044
rs2007044
6 0.882 0.040 12 2235794 intron variant A/G snv 0.50 0.010 1.000 1 2017 2017
dbSNP: rs2236418
rs2236418
6 0.882 0.120 10 26216567 upstream gene variant A/G snv 0.36 0.010 1.000 1 2017 2017
dbSNP: rs4356203
rs4356203
4 0.925 0.040 11 17138601 intron variant A/G snv 0.31 0.700 1.000 1 2014 2014
dbSNP: rs4583255
rs4583255
1 16 29977620 intron variant A/G snv 0.36 0.700 1.000 1 2014 2014
dbSNP: rs5905512
rs5905512
2 1.000 0.040 X 43867148 intron variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs6081541
rs6081541
2 1.000 0.040 20 19232246 intron variant A/G snv 0.20 0.700 1.000 1 2013 2013
dbSNP: rs61749465
rs61749465
5 0.851 0.120 8 6414832 missense variant A/G snv 2.1E-03 1.9E-03 0.010 1.000 1 2019 2019