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: rs3768716
rs3768716
BARD1
4 0.851 0.080 2 214771070 intron variant T/C snv 0.16 0.820 1.000 4 2009 2019
dbSNP: rs4758051
rs4758051 		3 0.882 0.080 11 8217092 intergenic variant G/A snv 0.42 0.040 1.000 4 2016 2020
dbSNP: rs6435862
rs6435862
BARD1
5 0.827 0.160 2 214807822 intron variant G/A;C;T snv 0.830 1.000 4 2009 2019
dbSNP: rs6939340
rs6939340
CASC15 ; NBAT1
4 0.851 0.160 6 22139775 intron variant A/G snv 0.62 0.840 1.000 4 2008 2017
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.030 1.000 3 2017 2019
dbSNP: rs121912443
rs121912443
SOD1
15 0.732 0.160 21 31663857 missense variant A/G snv 0.030 1.000 3 1999 2007
dbSNP: rs17487792
rs17487792
BARD1
3 0.882 0.080 2 214778776 intron variant C/T snv 0.16 0.810 1.000 3 2009 2019
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.030 1.000 3 2010 2014
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.030 1.000 3 2009 2018
dbSNP: rs201216664
rs201216664
NME2 ; NME1-NME2
5 0.851 0.080 17 51171503 missense variant A/G snv 0.030 1.000 3 1995 1999
dbSNP: rs63749805
rs63749805
PSEN1
6 0.807 0.120 14 73173577 missense variant C/G;T snv 0.030 1.000 3 1998 2001
dbSNP: rs11037575
rs11037575
HSD17B12
4 0.882 0.080 11 43706780 intron variant T/C snv 0.36 0.810 1.000 2 2012 2017
dbSNP: rs11655237
rs11655237
LINC00511 ; LINC00673
17 0.724 0.280 17 72404025 non coding transcript exon variant C/T snv 0.16 0.020 1.000 2 2018 2019
dbSNP: rs11994014
rs11994014 		5 0.827 0.200 8 24944767 intergenic variant A/G snv 0.70 0.020 1.000 2 2014 2018
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2014 2015
dbSNP: rs1424266770
rs1424266770
CASP3
10 0.790 0.200 4 184632307 missense variant C/G snv 8.0E-06 0.020 1.000 2 2010 2014
dbSNP: rs1475170339
rs1475170339
IGFALS ; SPSB3
18 0.732 0.240 16 1792325 missense variant T/C;G snv 0.020 1.000 2 2005 2007
dbSNP: rs17065417
rs17065417
LIN28B
3 0.882 0.080 6 104958399 intron variant A/C snv 0.10 0.810 1.000 2 2012 2017
dbSNP: rs17489363
rs17489363
BARD1 ; SNHG31
3 0.882 0.080 2 214809617 5 prime UTR variant A/G snv 0.73 0.74 0.020 1.000 2 2018 2019
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 1.000 2 2011 2014
dbSNP: rs221634
rs221634
LIN28B
4 0.851 0.080 6 105080213 3 prime UTR variant T/A snv 0.52 0.020 1.000 2 2016 2017
dbSNP: rs34637584
rs34637584
LRRK2
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.020 1.000 2 2012 2018
dbSNP: rs35850753
rs35850753
TP53
8 0.807 0.080 17 7675353 5 prime UTR variant C/T snv 1.3E-02 0.710 1.000 2 2014 2017
dbSNP: rs368087026
rs368087026
SLC19A1
33 0.637 0.520 21 45530890 missense variant G/A snv 0.020 1.000 2 2014 2015
dbSNP: rs369576054
rs369576054
MAPK10 ; ARHGAP24
6 0.807 0.120 4 85994925 missense variant C/T snv 2.8E-05 4.9E-05 0.020 1.000 2 1999 2001