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: rs143046984
rs143046984
PCNX1 ; LOC105370557
9 0.790 0.080 14 70937529 intron variant -/A delins 4.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs80359601
rs80359601
BRCA2
8 0.807 0.360 13 32340890 frameshift variant -/A;NNNNNNNN ins 4.1E-06 0.700 0
dbSNP: rs202110856
rs202110856
ERAP1
9 0.790 0.080 5 96794169 intron variant -/C delins 2.1E-05 0.700 1.000 1 2015 2015
dbSNP: rs377429877
rs377429877
STARD13
10 0.776 0.080 13 33518027 intron variant -/TAA delins 6.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs16892766
rs16892766 		18 0.716 0.240 8 116618444 intergenic variant A/C snv 9.3E-02 0.700 1.000 6 2008 2019
dbSNP: rs10911251
rs10911251
LAMC1
9 0.790 0.080 1 183112059 intron variant A/C snv 0.37 0.700 1.000 2 2013 2019
dbSNP: rs16973225
rs16973225
LOC102724001
9 0.790 0.080 15 81937658 intron variant A/C snv 7.4E-02 0.700 1.000 1 2015 2015
dbSNP: rs2184857
rs2184857
LOC105373224
9 0.790 0.080 1 239918447 upstream gene variant A/C snv 0.45 0.700 1.000 1 2017 2017
dbSNP: rs6058093
rs6058093
PIGU
12 0.776 0.080 20 34625392 intron variant A/C snv 0.55 0.700 1.000 1 2019 2019
dbSNP: rs6720296
rs6720296
LINC01121
9 0.790 0.080 2 45181130 intron variant A/C snv 0.52 0.700 1.000 1 2015 2015
dbSNP: rs73975588
rs73975588
NXN
9 0.790 0.080 17 913501 intron variant A/C snv 9.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs9924886
rs9924886
CDH3
10 0.776 0.080 16 68710036 intron variant A/C snv 0.25 0.700 1.000 1 2019 2019
dbSNP: rs764355898
rs764355898
NRK
1 1.000 0.080 X 105923145 missense variant A/C snv 7.9E-05 1.9E-05 0.700 0
dbSNP: rs769240800
rs769240800
PALB2
3 0.925 0.120 16 23638116 stop gained A/C snv 8.0E-06 0.700 0
dbSNP: rs11150038
rs11150038
CLEC3A
10 0.790 0.080 16 78042662 intron variant A/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs17102823
rs17102823 		10 0.776 0.080 14 34894698 intergenic variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.020 1.000 2 2013 2018
dbSNP: rs35107139
rs35107139
BMP4
11 0.776 0.080 14 53952388 intron variant A/C;G;T snv 0.700 1.000 2 2019 2019
dbSNP: rs4768903
rs4768903
DIP2B
9 0.790 0.080 12 50651666 intron variant A/C;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs2250430
rs2250430
PLEKHG6
10 0.776 0.080 12 6312008 intron variant A/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs4450168
rs4450168
SBF2
9 0.790 0.080 11 10265208 intron variant A/C;T snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs704017
rs704017
ZMIZ1-AS1
10 0.776 0.080 10 79059375 intron variant A/G snv 0.55 0.700 1.000 6 2014 2019
dbSNP: rs6687758
rs6687758 		11 0.763 0.200 1 221991606 regulatory region variant A/G snv 0.20 0.700 1.000 5 2010 2019
dbSNP: rs7229639
rs7229639
SMAD7
13 0.763 0.080 18 48924606 intron variant A/G snv 0.87 0.700 1.000 5 2014 2019
dbSNP: rs10505477
rs10505477
POU5F1B ; CASC8 ; PCAT1
31 0.658 0.400 8 127395198 intron variant A/G snv 0.40 0.700 1.000 4 2007 2018