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: rs8170
rs8170
BABAM1 ; USHBP1
13 0.724 0.160 19 17278895 synonymous variant G/A snv 0.15 0.18 0.720 1.000 3 2010 2016
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: 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: rs1243180
rs1243180
MLLT10
7 0.790 0.160 10 21626690 intron variant T/A snv 0.23 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: rs757210
rs757210
HNF1B
6 0.807 0.160 17 37736525 intron variant C/G;T snv 0.710 1.000 2 2013 2015
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: 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: 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: rs4286604
rs4286604 		2 0.925 0.120 4 69576447 intron variant A/G snv 0.76 0.710 1.000 1 2019 2019
dbSNP: rs4525119
rs4525119
AKR1C3 ; LOC107984198
2 0.925 0.120 10 5049762 intron variant C/T snv 0.30 0.710 1.000 1 2019 2019
dbSNP: rs7643459
rs7643459
LMCD1-AS1 ; LOC101927394
2 0.925 0.120 3 7963141 intron variant G/C;T snv 0.710 1.000 1 2019 2019
dbSNP: rs10069690
rs10069690
TERT
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.700 1.000 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: rs115344852
rs115344852
GPX6
1 1.000 0.120 6 28518321 intron variant A/C snv 0.700 1.000 1 2015 2015
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: rs1574560
rs1574560 		1 1.000 0.120 3 166329716 intergenic variant T/C snv 0.42 0.700 1.000 1 2018 2018
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: rs17130142
rs17130142
PKN2-AS1
1 1.000 0.120 1 87773925 intron variant G/A snv 6.5E-02 0.700 1.000 1 2018 2018
dbSNP: rs183211
rs183211
NSF ; LRRC37A2
4 0.882 0.160 17 46710944 intron variant G/A snv 0.28 0.30 0.700 1.000 1 2015 2015
dbSNP: rs2072590
rs2072590
HAGLR ; HAGLROS
4 0.851 0.120 2 176177905 non coding transcript exon variant A/C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs3814113
rs3814113 		5 0.827 0.200 9 16915023 upstream gene variant T/C snv 0.41 0.700 1.000 1 2015 2015
dbSNP: rs3820282
rs3820282
WNT4 ; LOC105376845
2 0.925 0.120 1 22141722 intron variant C/T snv 0.13 0.700 1.000 1 2015 2015
dbSNP: rs7230264
rs7230264 		1 1.000 0.120 18 27347470 intron variant G/A snv 0.15 0.700 1.000 1 2018 2018