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: rs6443626
rs6443626
PIK3CA ; KCNMB3
4 0.851 0.200 3 179237995 3 prime UTR variant T/C snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs7206411
rs7206411
CMIP
1 1.000 0.120 16 81619883 non coding transcript exon variant T/C snv 0.45 0.700 1.000 1 2019 2019
dbSNP: rs74917072
rs74917072
UBE2F ; UBE2F-SCLY
3 0.882 0.120 2 238022053 intron variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs7748275
rs7748275 		3 0.882 0.120 6 3580855 downstream gene variant T/A snv 8.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs79722116
rs79722116
FANCC ; AOPEP ; LOC107987102
3 0.882 0.120 9 95107192 synonymous variant C/T snv 4.6E-04 2.0E-04 0.010 1.000 1 2019 2019
dbSNP: rs80356897
rs80356897
BRCA1
5 0.827 0.160 17 43099853 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs80357268
rs80357268
BRCA1
6 0.827 0.200 17 43045773 missense variant C/T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs8069681
rs8069681 		1 1.000 0.120 17 5064847 downstream gene variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs3020450
rs3020450
ESR2
10 0.807 0.200 14 64301584 splice region variant C/A;T snv 0.020 1.000 2 2018 2019
dbSNP: rs10858374
rs10858374
LOC107987138
1 1.000 0.120 9 135247660 intron variant T/C snv 0.37 0.700 1.000 1 2018 2018
dbSNP: rs1136905
rs1136905
HLA-DRB3 ; HLA-DRB5
3 0.882 0.120 6 32518660 missense variant T/A;C snv 4.2E-03 0.010 1.000 1 2018 2018
dbSNP: rs12031579
rs12031579 		1 1.000 0.120 1 119307920 intron variant G/A snv 6.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs12117623
rs12117623
DNM3
1 1.000 0.120 1 172072640 intron variant C/A snv 0.25 0.700 1.000 1 2018 2018
dbSNP: rs12658731
rs12658731
ADAMTS16
1 1.000 0.120 5 5169477 intron variant G/A snv 0.26 0.700 1.000 1 2018 2018
dbSNP: rs137672
rs137672 		1 1.000 0.120 22 39341089 intergenic variant C/T snv 0.40 0.700 1.000 1 2018 2018
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: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1801200
rs1801200
ERBB2
7 0.790 0.200 17 39723335 missense variant A/G;T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs1836724
rs1836724
ERBB4
6 0.807 0.240 2 211380227 3 prime UTR variant G/A snv 0.57 0.010 1.000 1 2018 2018
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: rs1899663
rs1899663
HOTAIR
22 0.683 0.280 12 53967210 intron variant C/A snv 0.28 0.010 1.000 1 2018 2018
dbSNP: rs1989839
rs1989839
RASSF1 ; ZMYND10
8 0.790 0.160 3 50341515 intron variant A/G snv 0.22 0.20 0.010 1.000 1 2018 2018
dbSNP: rs2227982
rs2227982
PDCD1 ; LOC105373977
24 0.677 0.480 2 241851281 missense variant G/A snv 9.2E-02 4.3E-02 0.010 1.000 1 2018 2018
dbSNP: rs4143815
rs4143815
CD274
20 0.689 0.400 9 5468257 3 prime UTR variant G/C snv 0.23 0.010 1.000 1 2018 2018
dbSNP: rs4759314
rs4759314
HOTAIR
31 0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93 0.010 1.000 1 2018 2018