Source: ALL
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: rs11782652
rs11782652
CHMP4C
4 0.851 0.120 8 81741409 intron variant A/G snv 6.6E-02 0.710 1.000 2 2013 2015
dbSNP: rs17329882
rs17329882
SYNPO2
2 0.925 0.120 4 119028805 intron variant A/C;T snv 0.710 1.000 2 2015 2017
dbSNP: rs633862
rs633862 		5 0.925 0.120 9 133279871 upstream gene variant T/C snv 0.49 0.720 1.000 2 2014 2017
dbSNP: rs10017134
rs10017134
UGT2A1 ; UGT2A2
2 0.925 0.120 4 69591303 intron variant T/C snv 0.75 0.010 1.000 1 2019 2019
dbSNP: rs1002076
rs1002076
KIF1B
2 0.925 0.120 1 10378834 3 prime UTR variant G/A snv 0.33 0.010 < 0.001 1 2015 2015
dbSNP: rs10088218
rs10088218
LINC00824
4 0.851 0.120 8 128531703 intron variant G/A snv 0.13 0.700 1.000 1 2015 2015
dbSNP: rs1017134
rs1017134 		2 0.925 0.120 7 35307237 intergenic variant G/A snv 0.47 0.010 1.000 1 2019 2019
dbSNP: rs10260419
rs10260419
THSD7A
3 0.882 0.120 7 11524758 intron variant C/G snv 0.26 0.010 1.000 1 2019 2019
dbSNP: rs1057156
rs1057156
RUVBL1
2 0.925 0.120 3 128081228 3 prime UTR variant A/G snv 0.22 0.23 0.010 1.000 1 2019 2019
dbSNP: rs10788679
rs10788679
ARHGEF10L
2 0.925 0.120 1 17590467 intron variant A/G snv 0.59 0.010 1.000 1 2018 2018
dbSNP: rs11175194
rs11175194
SRGAP1
2 0.925 0.120 12 63871057 intron variant G/A snv 0.15 0.710 1.000 1 2014 2014
dbSNP: rs114972508
rs114972508
EGFR ; LOC105375284
2 0.925 0.120 7 55020815 intron variant T/C snv 1.4E-02 0.010 1.000 1 2019 2019
dbSNP: rs115344852
rs115344852
GPX6
1 1.000 0.120 6 28518321 intron variant A/C snv 0.700 1.000 1 2015 2015
dbSNP: rs11696662
rs11696662
PLCG1
2 0.925 0.120 20 41161795 intron variant C/T snv 4.4E-02 0.010 1.000 1 2014 2014
dbSNP: rs1192691
rs1192691 		2 0.925 0.120 10 36880367 regulatory region variant G/T snv 0.90 0.710 1.000 1 2014 2014
dbSNP: rs12039431
rs12039431
RSPO1
1 1.000 0.120 1 37616450 intron variant G/A snv 0.24 0.21 0.700 1.000 1 2015 2015
dbSNP: rs1413299
rs1413299
COL15A1
2 0.925 0.120 9 98998959 intron variant G/A;T snv 0.710 1.000 1 2014 2014
dbSNP: rs142091544
rs142091544 		2 0.925 0.120 5 168286995 upstream gene variant C/T snv 2.1E-02 0.710 1.000 1 2019 2019
dbSNP: rs1456079929
rs1456079929
PGR
5 0.851 0.120 11 101042001 missense variant C/A snv 8.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs146314922
rs146314922
NLRP2
2 0.925 0.120 19 54982828 missense variant A/G snv 0.010 1.000 1 2005 2005
dbSNP: rs149652370
rs149652370
RUVBL1
2 0.925 0.120 3 128084115 non coding transcript exon variant A/G snv 1.3E-04 0.010 1.000 1 2019 2019
dbSNP: rs1574560
rs1574560 		1 1.000 0.120 3 166329716 intergenic variant T/C snv 0.42 0.700 1.000 1 2018 2018
dbSNP: rs1596797
rs1596797
MUC16
2 0.925 0.120 19 8977341 missense variant T/A;C;G snv 2.0E-05; 4.0E-06; 0.74 0.010 < 0.001 1 2011 2011
dbSNP: rs1614627
rs1614627 		1 1.000 0.120 1 20620263 downstream gene variant A/C snv 0.86 0.700 1.000 1 2018 2018
dbSNP: rs1649942
rs1649942
NRG3
3 0.925 0.120 10 82191935 intron variant G/A;C snv 0.010 1.000 1 2019 2019