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: rs34301344
rs34301344
ARL11
22 0.689 0.400 13 49630893 stop gained G/A snv 9.7E-03 7.9E-03 0.020 1.000 2 2006 2007
dbSNP: rs3803185
rs3803185
ARL11
19 0.708 0.320 13 49630889 missense variant T/C;G snv 0.39 0.020 1.000 2 2006 2007
dbSNP: rs755100942
rs755100942
ARL11
17 0.724 0.320 13 49630894 stop gained G/A snv 4.2E-06 0.020 1.000 2 2006 2007
dbSNP: rs147120792
rs147120792
ARL11
6 0.851 0.200 13 49630839 missense variant C/A;T snv 3.0E-02 0.010 1.000 1 2007 2007
dbSNP: rs165599
rs165599
ARVCF ; COMT
27 0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56 0.010 1.000 1 2013 2013
dbSNP: rs1801516
rs1801516
ATM
39 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.010 1.000 1 2014 2014
dbSNP: rs769142993
rs769142993
ATM ; C11orf65
7 0.851 0.280 11 108331498 missense variant G/C;T snv 2.4E-05 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1064797245
rs1064797245
ATP1A3
12 0.776 0.280 19 41970540 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs782175860
rs782175860
ATP1A3
2 0.925 19 41975776 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs778581081
rs778581081
ATP2A3
2 0.925 17 3937577 missense variant C/T snv 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs398122820
rs398122820
B2M
8 0.790 0.240 15 44715641 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs28997576
rs28997576
BARD1
11 0.776 0.160 2 214752454 missense variant C/G;T snv 1.5E-02 0.010 1.000 1 2006 2006
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.020 < 0.001 2 2014 2016
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.020 < 0.001 2 2014 2016
dbSNP: rs1202752581
rs1202752581
BECN1
2 0.925 0.040 17 42820818 missense variant C/T snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2003 2003
dbSNP: rs748876625
rs748876625
BRCA1
10 0.807 0.160 17 43104122 missense variant C/A;G snv 1.2E-05 0.010 1.000 1 2003 2003
dbSNP: rs80357033
rs80357033
BRCA1
2 0.925 0.200 17 43106467 missense variant A/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs11571833
rs11571833
BRCA2
43 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.010 1.000 1 2019 2019
dbSNP: rs11871753
rs11871753
BRIP1
4 0.851 0.120 17 61779284 intron variant A/G snv 0.75 0.010 1.000 1 2018 2018
dbSNP: rs16945628
rs16945628
BRIP1
4 0.851 0.120 17 61789868 intron variant T/C snv 0.60 0.010 1.000 1 2018 2018
dbSNP: rs150599989
rs150599989
C5AR2
5 0.827 0.320 19 47341767 missense variant G/A;C;T snv 4.0E-06; 9.6E-05 0.010 1.000 1 2006 2006
dbSNP: rs3803662
rs3803662
CASC16
25 0.662 0.440 16 52552429 non coding transcript exon variant A/G snv 0.63 0.020 1.000 2 2014 2016
dbSNP: rs964793521
rs964793521
CASP3
2 0.925 0.080 4 184638460 5 prime UTR variant C/T snv 1.4E-05 0.010 1.000 1 2001 2001