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: rs4849887
rs4849887 		7 0.807 0.080 2 120487546 intergenic variant T/A;C snv 0.710 1.000 4 2013 2019
dbSNP: rs515726123
rs515726123
PALB2
4 0.882 0.080 16 23636036 frameshift variant CT/- delins 1.4E-05 0.710 1.000 4 2010 2018
dbSNP: rs6001930
rs6001930
MRTFA
2 0.925 0.080 22 40480230 intron variant T/C snv 0.12 0.710 1.000 4 2013 2017
dbSNP: rs614367
rs614367 		4 0.882 0.080 11 69513996 intergenic variant C/T snv 0.14 0.710 1.000 4 2010 2014
dbSNP: rs6828523
rs6828523
ADAM29
4 0.851 0.080 4 174925275 intron variant C/A snv 0.20 0.710 1.000 4 2013 2017
dbSNP: rs7297051
rs7297051 		2 0.925 0.080 12 28021884 TF binding site variant C/T snv 0.22 0.710 1.000 4 2016 2017
dbSNP: rs941764
rs941764
CCDC88C
2 0.925 0.080 14 91374725 intron variant A/G snv 0.46 0.710 1.000 4 2013 2017
dbSNP: rs9693444
rs9693444 		2 0.925 0.080 8 29652100 intergenic variant A/C snv 0.66 0.710 1.000 4 2013 2017
dbSNP: rs9790517
rs9790517
TET2
2 0.925 0.080 4 105163621 intron variant C/T snv 0.20 0.710 1.000 4 2013 2017
dbSNP: rs10472076
rs10472076 		2 0.925 0.080 5 58888234 regulatory region variant T/A;C snv 0.700 1.000 3 2013 2017
dbSNP: rs1064795369
rs1064795369
TP53
3 0.882 0.080 17 7673791 missense variant A/C;G snv 0.030 1.000 3 2003 2013
dbSNP: rs11199914
rs11199914 		2 0.925 0.080 10 121334387 intergenic variant C/T snv 0.40 0.700 1.000 3 2013 2017
dbSNP: rs11242675
rs11242675 		2 0.925 0.080 6 1318643 downstream gene variant C/T snv 0.58 0.710 0.667 3 2013 2015
dbSNP: rs11571653
rs11571653
BRCA2
2 0.925 0.080 13 32336705 missense variant A/G snv 2.3E-04 1.7E-04 0.030 1.000 3 2003 2017
dbSNP: rs11814448
rs11814448 		2 0.925 0.080 10 22026914 intergenic variant A/C snv 0.21 0.700 1.000 3 2013 2017
dbSNP: rs11820646
rs11820646 		2 0.925 0.080 11 129591276 upstream gene variant T/C;G snv 0.700 1.000 3 2013 2017
dbSNP: rs120963
rs120963
NDUFAB1
3 0.925 0.080 16 23596749 upstream gene variant A/G snv 0.28 0.030 1.000 3 2008 2018
dbSNP: rs12422552
rs12422552 		3 0.925 0.080 12 14260997 regulatory region variant G/C snv 0.30 0.700 1.000 3 2013 2017
dbSNP: rs12662670
rs12662670
CCDC170
4 0.851 0.080 6 151597721 intron variant T/C;G snv 0.710 1.000 3 2012 2016
dbSNP: rs12922061
rs12922061
CASC16
3 0.925 0.080 16 52601088 intron variant C/T snv 0.19 0.720 1.000 3 2013 2019
dbSNP: rs132390
rs132390
EMID1 ; LOC105372985
2 0.925 0.080 22 29225488 intron variant C/T snv 0.96 0.700 1.000 3 2013 2017
dbSNP: rs1353747
rs1353747
PDE4D
3 0.882 0.080 5 59041654 intron variant T/G snv 6.9E-02 0.700 1.000 3 2013 2017
dbSNP: rs1436904
rs1436904
CHST9 ; AQP4-AS1
4 0.851 0.080 18 26990703 intron variant T/G snv 0.35 0.700 1.000 3 2013 2017
dbSNP: rs1462893414
rs1462893414
ESR1
5 0.882 0.080 6 151944323 missense variant A/G snv 4.0E-06 7.0E-06 0.030 1.000 3 2005 2007
dbSNP: rs1550623
rs1550623 		2 0.925 0.080 2 173348166 intron variant G/A snv 0.80 0.700 1.000 3 2013 2017