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: rs9909104
rs9909104
SHMT1
4 0.882 0.200 17 18344707 intron variant T/C snv 0.30 0.010 1.000 1 2008 2008
dbSNP: rs9787692
rs9787692 		1 1.000 0.120 10 8603200 intergenic variant T/G snv 0.30 0.700 1.000 1 2018 2018
dbSNP: rs9609538
rs9609538
RTCB ; BPIFC
2 0.925 0.120 22 32413845 upstream gene variant T/C snv 0.34 0.010 1.000 1 2014 2014
dbSNP: rs9303542
rs9303542
SKAP1
3 0.882 0.120 17 48334138 intron variant A/G snv 0.34 0.700 1.000 1 2015 2015
dbSNP: rs9283636
rs9283636 		1 1.000 0.120 3 166315136 intergenic variant G/A snv 0.46 0.700 1.000 1 2018 2018
dbSNP: rs927062
rs927062
AKAP6
2 0.925 0.120 14 32625843 intron variant A/G snv 0.22 0.010 1.000 1 2018 2018
dbSNP: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2008 2008
dbSNP: rs851797
rs851797
EXO1
13 0.752 0.240 1 241889740 3 prime UTR variant A/G snv 0.72 0.010 1.000 1 2017 2017
dbSNP: rs8170
rs8170
BABAM1 ; USHBP1
13 0.724 0.160 19 17278895 synonymous variant G/A snv 0.15 0.18 0.720 1.000 3 2010 2016
dbSNP: rs8044477
rs8044477 		1 1.000 0.120 16 58942687 intron variant A/G snv 0.53 0.700 1.000 1 2015 2015
dbSNP: rs80357796
rs80357796
BRCA1
11 0.752 0.240 17 43094464 frameshift variant T/- del 0.010 1.000 1 2005 2005
dbSNP: rs80357138
rs80357138
BRCA1
9 0.763 0.200 17 43094776 missense variant C/T snv 8.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs7977932
rs7977932
LRRC43 ; IL31
10 0.763 0.320 12 122172836 intron variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs7975232
rs7975232
VDR
56 0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55 0.010 1.000 1 2013 2013
dbSNP: rs7958904
rs7958904
HOTAIR
15 0.724 0.200 12 53963768 non coding transcript exon variant C/A;G snv 0.010 1.000 1 2016 2016
dbSNP: rs7748275
rs7748275 		3 0.882 0.120 6 3580855 downstream gene variant T/A snv 8.2E-02 0.010 1.000 1 2019 2019
dbSNP: rs768623239
rs768623239
GSTM1 ; GSTM2
26 0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05 0.010 1.000 1 2016 2016
dbSNP: rs7651446
rs7651446
TIPARP
3 0.882 0.120 3 156689208 intron variant G/T snv 7.9E-02 0.700 1.000 1 2015 2015
dbSNP: rs7643459
rs7643459
LMCD1-AS1 ; LOC101927394
2 0.925 0.120 3 7963141 intron variant G/C;T snv 0.710 1.000 1 2019 2019
dbSNP: rs76032516
rs76032516
MAML2
2 0.925 0.120 11 96097550 intron variant A/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs7572644
rs7572644
BABAM2
2 0.925 0.120 2 28097166 intron variant T/C snv 0.21 0.010 1.000 1 2019 2019
dbSNP: rs757210
rs757210
HNF1B
6 0.807 0.160 17 37736525 intron variant C/G;T snv 0.710 1.000 2 2013 2015
dbSNP: rs755378873
rs755378873
SLC13A5
5 0.851 0.120 17 6694197 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs753461846
rs753461846
MAD1L1
2 0.925 0.120 7 1898249 missense variant C/A;G;T snv 4.0E-06; 2.8E-05 0.010 1.000 1 2013 2013
dbSNP: rs7501462
rs7501462 		2 0.925 0.120 17 16974091 upstream gene variant A/G snv 0.31 0.010 1.000 1 2014 2014