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: rs9960767
rs9960767
3 0.925 0.040 18 55487771 intron variant A/C;G snv 0.010 1.000 1 2012 2012
dbSNP: rs993804
rs993804
2 3 25070680 intron variant C/T snv 0.75 0.800 1.000 1 2010 2010
dbSNP: rs989638
rs989638
3 0.925 0.040 X 123239256 intron variant C/G;T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs9834970
rs9834970
9 0.790 0.080 3 36814539 downstream gene variant T/C snv 0.45 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: rs947267
rs947267
4 0.882 0.040 13 105487313 intron variant T/G snv 0.51 0.010 1.000 1 2009 2009
dbSNP: rs934945
rs934945
10 0.827 0.200 2 238246412 missense variant C/T snv 0.21 0.15 0.010 1.000 1 2015 2015
dbSNP: rs893924483
rs893924483
23 0.716 0.280 11 27658285 missense variant C/A;T snv 4.0E-06 1.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs886424
rs886424
10 0.776 0.320 6 30814225 non coding transcript exon variant C/T snv 7.1E-02 8.7E-02 0.700 1.000 1 2012 2012
dbSNP: rs802568
rs802568
4 0.925 0.040 7 146262151 intron variant T/G snv 0.17 0.800 1.000 1 2010 2010
dbSNP: rs802524
rs802524
2 7 146254550 intron variant T/C;G snv 0.700 1.000 1 2010 2010
dbSNP: rs7912580
rs7912580
2 1.000 0.040 10 62156213 regulatory region variant G/A snv 7.6E-02 0.700 1.000 1 2014 2014
dbSNP: rs7872515
rs7872515
4 0.925 0.040 9 92060258 intron variant G/A snv 0.25 0.700 1.000 1 2012 2012
dbSNP: rs7863476
rs7863476
2 1.000 0.040 9 26915927 intron variant G/A;C snv 0.29 0.700 1.000 1 2014 2014
dbSNP: rs781720548
rs781720548
5 0.882 0.040 20 35652946 stop gained C/A snv 0.010 1.000 1 2017 2017
dbSNP: rs7799039
rs7799039
33 0.649 0.560 7 128238730 upstream gene variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs778294
rs778294
5 0.851 0.040 13 105489886 synonymous variant C/A;T snv 0.27; 4.0E-06 0.26 0.010 1.000 1 2010 2010
dbSNP: rs778293
rs778293
7 0.807 0.120 13 105516850 intergenic variant C/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs7759855
rs7759855
3 0.925 0.040 6 28315086 downstream gene variant A/G snv 2.8E-02 0.010 1.000 1 2014 2014
dbSNP: rs7727102
rs7727102
2 5 4720472 intron variant G/C snv 0.32 0.800 1.000 1 2010 2010
dbSNP: rs769404
rs769404
2 1.000 0.040 2 170822115 synonymous variant T/C snv 0.39 0.35 0.010 1.000 1 2017 2017
dbSNP: rs7687423
rs7687423
3 0.925 0.080 4 163329645 intron variant A/G snv 0.53 0.010 1.000 1 2009 2009
dbSNP: rs7600871
rs7600871
2 2 133257389 intron variant C/T snv 0.16 0.700 1.000 1 2010 2010
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 0.889 18 2006 2019
dbSNP: rs751229
rs751229
2 1.000 0.040 1 231632793 intron variant A/G;T snv 0.010 1.000 1 2007 2007