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: rs1400482
rs1400482
LINC00824
2 0.925 0.120 8 128529685 intron variant G/A snv 0.13 0.700 1.000 1 2017 2017
dbSNP: rs143663961
rs143663961
ATAD5
1 1.000 0.120 17 30854202 intron variant -/T delins 0.700 1.000 1 2017 2017
dbSNP: rs144199732
rs144199732 		1 1.000 0.120 X 43022624 intergenic variant C/T snv 1.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs1444192401
rs1444192401
KRT7
4 0.882 0.120 12 52235347 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs144962376
rs144962376
MLLT10
2 0.925 0.120 10 21589903 intron variant CCCCTT/-;CCCCTTCCCCTT delins 0.700 1.000 1 2017 2017
dbSNP: rs145022376
rs145022376
ADARB2 ; LINC00200
1 1.000 0.120 10 1186289 intron variant C/- delins 9.1E-03 0.700 1.000 1 2019 2019
dbSNP: rs145065165
rs145065165 		1 1.000 0.120 16 55347327 intergenic variant G/A snv 1.0E-03 0.700 1.000 1 2018 2018
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: rs147961867
rs147961867
MAPK3
3 0.882 0.120 16 30121998 missense variant T/C snv 5.6E-05 2.8E-05 0.010 1.000 1 2011 2011
dbSNP: rs150303591
rs150303591
FRAS1
1 1.000 0.120 4 78088155 intron variant C/T snv 0.80 0.700 1.000 1 2016 2016
dbSNP: rs1516982
rs1516982
LINC00824
3 0.882 0.120 8 128521400 intron variant A/G snv 0.16 0.010 1.000 1 2012 2012
dbSNP: rs1555578360
rs1555578360
BRCA1
1 1.000 0.120 17 43063353 frameshift variant -/T delins 0.700 1.000 1 2004 2004
dbSNP: rs1555587401
rs1555587401
BRCA1
1 1.000 0.120 17 43091910 frameshift variant C/- del 0.700 1.000 1 2004 2004
dbSNP: rs1555588460
rs1555588460
BRCA1
1 1.000 0.120 17 43092472 frameshift variant G/- delins 0.700 1.000 1 2004 2004
dbSNP: rs169225
rs169225 		1 1.000 0.120 20 22393040 intron variant T/G snv 0.42 0.700 1.000 1 2019 2019
dbSNP: rs17631303
rs17631303
PLEKHM1
2 1.000 0.120 17 45439036 intron variant A/G snv 0.12 0.800 1.000 1 2013 2013
dbSNP: rs17693104
rs17693104
SH2D4B
1 1.000 0.120 10 80608465 intron variant T/C snv 0.61 0.700 1.000 1 2017 2017
dbSNP: rs1791890
rs1791890
LOC107984393
1 1.000 0.120 11 116120763 intergenic variant A/G snv 0.44 0.700 1.000 1 2019 2019
dbSNP: rs1805129
rs1805129
CHEK2
3 0.882 0.120 22 28734470 synonymous variant T/C snv 3.6E-02 4.0E-02 0.010 1.000 1 2004 2004
dbSNP: rs185229225
rs185229225
BOD1L1
4 0.851 0.120 4 13607505 intron variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs185652178
rs185652178
JAKMIP2-AS1
1 1.000 0.120 5 147579243 intron variant C/T snv 2.2E-03 0.700 1.000 1 2019 2019
dbSNP: rs186724
rs186724
AHCYL1
3 0.882 0.120 1 110018293 intron variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1879586
rs1879586
PLEKHM1
2 0.925 0.120 17 45489971 intron variant C/G snv 0.12 0.700 1.000 1 2017 2017
dbSNP: rs1934363
rs1934363
LINC02652
1 1.000 0.120 10 28484549 intron variant G/C snv 0.18 0.700 1.000 1 2019 2019
dbSNP: rs199443
rs199443
NSF ; LRRC37A2
1 1.000 0.120 17 46742199 intron variant C/T snv 0.15 0.700 1.000 1 2013 2013