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: rs10036748
rs10036748
TNIP1
11 0.752 0.360 5 151078585 intron variant C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs10046
rs10046
CYP19A1 ; MIR4713HG
18 0.708 0.400 15 51210789 3 prime UTR variant G/A snv 0.45 0.43 0.010 1.000 1 2014 2014
dbSNP: rs10165970
rs10165970
NPAS2
18 0.708 0.320 2 100840527 intron variant G/A snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs10203853
rs10203853
MROH2A
5 1.000 0.080 2 233778772 intron variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs10204525
rs10204525
PDCD1
20 0.701 0.440 2 241850169 3 prime UTR variant C/T snv 0.21 0.010 1.000 1 2016 2016
dbSNP: rs10211
rs10211
CYP3A7 ; ZSCAN25 ; CYP3A7-CYP3A51P
1 1.000 0.080 7 99705371 3 prime UTR variant T/C snv 0.25 0.010 1.000 1 2012 2012
dbSNP: rs1021737
rs1021737
CTH
2 0.925 0.120 1 70439117 missense variant G/T snv 0.28 0.24 0.010 1.000 1 2018 2018
dbSNP: rs1031245702
rs1031245702
COL11A2
1 1.000 0.080 6 33171534 missense variant A/G snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs10380
rs10380
MTRR
6 0.807 0.200 5 7897078 missense variant C/T snv 0.16 0.18 0.010 1.000 1 2011 2011
dbSNP: rs1040264140
rs1040264140
FURIN
2 1.000 0.080 15 90881744 missense variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs1041981
rs1041981
LTA ; LOC100287329
25 0.667 0.520 6 31573007 missense variant C/A snv 0.35 0.38 0.010 < 0.001 1 2012 2012
dbSNP: rs10434
rs10434
VEGFA
17 0.701 0.480 6 43785475 3 prime UTR variant A/G snv 0.59 0.010 1.000 1 2017 2017
dbSNP: rs1044129
rs1044129
RYR3 ; AVEN
9 0.790 0.200 15 33866065 3 prime UTR variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1044471
rs1044471
ADIPOR2
4 1.000 0.080 12 1787790 3 prime UTR variant C/T snv 0.38 0.010 1.000 1 2017 2017
dbSNP: rs1044498
rs1044498
ENPP1
15 0.752 0.360 6 131851228 missense variant A/C;G snv 0.19 0.010 1.000 1 2012 2012
dbSNP: rs1045485
rs1045485
CASP8
34 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 0.010 1.000 1 2008 2008
dbSNP: rs1047781
rs1047781
FUT2 ; LOC105447645
11 0.790 0.200 19 48703374 missense variant A/T snv 3.6E-02 1.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs1048290
rs1048290
KEAP1
4 0.851 0.160 19 10489766 synonymous variant G/C snv 0.41 0.48 0.010 1.000 1 2019 2019
dbSNP: rs10484879
rs10484879
IL17A
5 0.827 0.160 6 52187159 intron variant G/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs104893751
rs104893751
OGG1
5 0.882 0.240 3 9750423 missense variant G/A;C snv 2.2E-03; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.010 < 0.001 1 1999 1999
dbSNP: rs10490920
rs10490920
PTEN
1 1.000 0.080 10 87925886 intron variant T/C snv 0.14 0.010 1.000 1 2014 2014
dbSNP: rs1049434
rs1049434
SLC16A1
2 0.925 0.120 1 112913924 missense variant A/T snv 0.59 0.66 0.010 1.000 1 2015 2015
dbSNP: rs1050152
rs1050152
SLC22A4 ; MIR3936HG
10 0.776 0.480 5 132340627 missense variant C/T snv 0.29 0.28 0.010 1.000 1 2017 2017
dbSNP: rs1050171
rs1050171
EGFR ; EGFR-AS1
6 0.851 0.120 7 55181370 missense variant G/A;C snv 0.52; 4.0E-06 0.010 1.000 1 2017 2017