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: rs28381975
rs28381975
PDCD6IP ; LOC105377023
5 0.827 0.200 3 33798239 intron variant -/TTACGTACCTGTGCA;TTCCGTACCTGTGCA;TTTCGTACCTGTGCA delins 0.010 1.000 1 2015 2015
dbSNP: rs10629804
rs10629804
PRDM6
1 1.000 0.080 5 123142307 intron variant -/TTCAC delins 0.72 0.700 1.000 1 2017 2017
dbSNP: rs11288072
rs11288072
EBF1
1 1.000 0.080 5 159008453 intron variant A/- del 0.25 0.700 1.000 1 2017 2017
dbSNP: rs146817970
rs146817970
ATG10
1 1.000 0.080 5 82217129 intron variant A/- del 0.19 0.700 1.000 1 2017 2017
dbSNP: rs5780218
rs5780218
KISS1
4 0.882 0.080 1 204196482 5 prime UTR variant A/- delins 0.44 0.010 1.000 1 2015 2015
dbSNP: rs5837757
rs5837757 		1 1.000 0.080 2 200849597 upstream gene variant A/- del 0.15 0.700 1.000 1 2017 2017
dbSNP: rs587780174
rs587780174
CHEK2
7 0.827 0.360 22 28695239 frameshift variant A/- delins 4.4E-05 5.6E-05 0.700 0
dbSNP: rs886039958
rs886039958
BRCA1
3 0.882 0.080 17 43093956 frameshift variant A/-;AA delins 0.010 1.000 1 2007 2007
dbSNP: rs80359306
rs80359306
BRCA2
6 0.827 0.280 13 32333284 frameshift variant A/-;AA delins 0.700 0
dbSNP: rs80359770
rs80359770
BRCA2
5 0.851 0.200 13 32332429 frameshift variant A/-;AA delins 0.700 0
dbSNP: rs144848
rs144848
BRCA2
29 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.100 0.923 13 2000 2017
dbSNP: rs4646
rs4646
CYP19A1 ; MIR4713HG
16 0.716 0.360 15 51210647 3 prime UTR variant A/C snv 0.67 0.70 0.090 1.000 9 2008 2015
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: rs11814448
rs11814448 		2 0.925 0.080 10 22026914 intergenic variant A/C snv 0.21 0.700 1.000 3 2013 2017
dbSNP: rs3734805
rs3734805
CCDC170 ; LOC107986528
2 0.925 0.080 6 151618215 3 prime UTR variant A/C snv 6.9E-02 0.730 1.000 3 2011 2016
dbSNP: rs981782
rs981782
HCN1
4 0.851 0.080 5 45285616 intron variant A/C snv 0.34 0.030 1.000 3 2012 2016
dbSNP: rs1204382931
rs1204382931
CYP1B1 ; CYP1B1-AS1
10 0.790 0.160 2 38075270 missense variant A/C snv 4.3E-06 0.020 1.000 2 2015 2018
dbSNP: rs12048493
rs12048493
OTUD7B
1 1.000 0.080 1 149955122 intron variant A/C snv 0.29 0.700 1.000 2 2015 2017
dbSNP: rs1482057
rs1482057
RORA
2 0.925 0.080 15 60772552 intron variant A/C snv 0.80 0.020 1.000 2 2014 2019
dbSNP: rs17001868
rs17001868
ADSL ; SGSM3 ; LOC107985538
3 0.925 0.080 22 40382227 intron variant A/C snv 0.12 0.020 1.000 2 2015 2017
dbSNP: rs2787486
rs2787486
STXBP4
3 0.925 0.080 17 55132413 intron variant A/C snv 0.33 0.710 1.000 2 2016 2017
dbSNP: rs61764370
rs61764370
KRAS
29 0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02 0.020 0.500 2 2012 2016
dbSNP: rs10043985
rs10043985 		2 0.925 0.080 5 111065770 upstream gene variant A/C snv 5.2E-02 0.010 1.000 1 2019 2019
dbSNP: rs11085735
rs11085735
KEAP1
2 0.925 0.080 19 10491504 intron variant A/C snv 0.92 0.010 1.000 1 2015 2015
dbSNP: rs11895168
rs11895168
ERBB4
4 0.925 0.080 2 211377467 3 prime UTR variant A/C snv 0.68 0.010 1.000 1 2016 2016