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: rs75061358
rs75061358 		4 0.882 0.040 7 54848587 intergenic variant T/C;G snv 0.700 1.000 3 2015 2018
dbSNP: rs13332653
rs13332653 		3 0.882 0.040 16 24578078 intergenic variant T/G snv 0.11 0.010 1.000 1 2014 2014
dbSNP: rs144551722
rs144551722 		4 0.851 0.040 X 43632629 intergenic variant G/A snv 0.13 0.010 1.000 1 2019 2019
dbSNP: rs17296479
rs17296479 		5 0.851 0.040 5 81411157 non coding transcript exon variant T/A snv 9.4E-02 0.010 1.000 1 2012 2012
dbSNP: rs9933544
rs9933544 		3 0.882 0.040 16 24576962 downstream gene variant A/C snv 0.29 0.010 1.000 1 2014 2014
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 < 0.001 2 2005 2020
dbSNP: rs1128503
rs1128503
ABCB1
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.020 0.500 2 2009 2020
dbSNP: rs1259560536
rs1259560536
ADAM33
1 1.000 0.040 20 3671756 missense variant T/C snv 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1402272180
rs1402272180
AKT3
1 1.000 0.040 1 243637661 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs2291427
rs2291427
ALOX5
2 0.925 0.040 10 45440776 intron variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs2440472
rs2440472
AMFR
5 0.827 0.080 16 56402912 intron variant A/G snv 0.61 0.010 1.000 1 2018 2018
dbSNP: rs373191257
rs373191257
AMFR
5 0.827 0.080 16 56363027 missense variant T/A snv 1.6E-05 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs3092993
rs3092993
ATM ; C11orf65
5 0.827 0.040 11 108364388 intron variant C/A snv 0.11 0.010 1.000 1 2007 2007
dbSNP: rs76151636
rs76151636
ATP7B
10 0.776 0.280 13 51944145 missense variant G/A;T snv 4.0E-06; 9.2E-04 0.010 1.000 1 2014 2014
dbSNP: rs11548193
rs11548193
BCAT2
2 0.925 0.040 19 48799813 missense variant G/A;C snv 0.14 0.010 1.000 1 2017 2017
dbSNP: rs1320938886
rs1320938886
BLZF1
4 0.851 0.040 1 169376605 missense variant T/G snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.090 1.000 9 2011 2019
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.090 1.000 9 2011 2019
dbSNP: rs1135401891
rs1135401891
BRCA2
7 0.790 0.280 13 32332796 frameshift variant -/CT ins 0.010 1.000 1 2018 2018
dbSNP: rs11571833
rs11571833
BRCA2
43 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.010 < 0.001 1 2016 2016
dbSNP: rs11670188
rs11670188
BTBD2
2 0.925 0.040 19 2014038 non coding transcript exon variant A/G snv 0.16 0.010 1.000 1 2010 2010
dbSNP: rs373584770
rs373584770
CASP1
5 0.827 0.120 11 105030337 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs55705857
rs55705857
CCDC26
16 0.732 0.080 8 129633446 intron variant A/G snv 3.9E-02 0.710 1.000 3 2013 2018
dbSNP: rs891835
rs891835
CCDC26
5 0.851 0.120 8 129479506 intron variant T/G snv 0.17 0.020 1.000 2 2010 2014
dbSNP: rs10464870
rs10464870
CCDC26
3 0.882 0.040 8 129465577 intron variant C/T snv 0.80 0.010 1.000 1 2010 2010