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: rs10521496
rs10521496
DIAPH2
3 0.882 0.120 X 97043550 intron variant G/A snv 0.41 0.010 1.000 1 2007 2007
dbSNP: rs3762986
rs3762986
PCSK1 ; LOC101929710
2 0.925 0.080 5 96435158 intron variant C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs155979
rs155979
PCSK1 ; LOC101929710
2 0.925 0.080 5 96434194 intron variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs2228363
rs2228363
TGFBR3
2 0.925 0.080 1 91698089 missense variant G/A snv 6.7E-03 6.9E-03 0.010 1.000 1 2006 2006
dbSNP: rs1554563822
rs1554563822
NBN
1 1.000 0.040 8 89970389 stop gained G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs75398746
rs75398746
POF1B
3 0.882 0.080 X 85308188 missense variant C/T snv 2.7E-03 3.5E-03 0.010 1.000 1 2011 2011
dbSNP: rs8179090
rs8179090
TIMP2
12 0.752 0.280 17 78925807 upstream gene variant C/G snv 1.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs2277698
rs2277698
TIMP2 ; CEP295NL
6 0.807 0.320 17 78870935 synonymous variant C/T snv 0.13 0.11 0.010 1.000 1 2019 2019
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 < 0.001 1 2016 2016
dbSNP: rs113994016
rs113994016
EIF2B2
2 0.925 0.080 14 75006701 missense variant A/G snv 2.0E-05 0.700 1.000 1 2018 2018
dbSNP: rs71647803
rs71647803
FIGLA
2 0.925 0.080 2 70790628 missense variant G/A;T snv 1.2E-04 0.010 1.000 1 2008 2008
dbSNP: rs369140654
rs369140654
FIGLA
2 0.925 0.080 2 70787786 missense variant G/A;T snv 1.2E-05 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs7566476
rs7566476
FIGLA
2 0.925 0.080 2 70785602 missense variant C/G snv 0.63 0.65 0.010 1.000 1 2015 2015
dbSNP: rs1049127
rs1049127
LAG3
2 0.925 0.080 12 6777854 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs1435998287
rs1435998287
SF1
2 0.925 0.080 11 64778294 synonymous variant C/T snv 1.4E-05 0.010 < 0.001 1 2012 2012
dbSNP: rs12611091
rs12611091
BRSK1
2 0.925 0.080 19 55288961 intron variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs10061133
rs10061133
CDC20B ; MIR449A ; MIR449B
4 0.851 0.160 5 55170716 mature miRNA variant A/G snv 0.11 8.6E-02 0.010 1.000 1 2016 2016
dbSNP: rs587778430
rs587778430
KDR
7 0.807 0.280 4 55110466 missense variant C/T snv 1.2E-05 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs722910
rs722910
FST
2 0.925 0.080 5 53485767 3 prime UTR variant A/C;T snv 0.010 < 0.001 1 2013 2013
dbSNP: rs13172105
rs13172105
ADAMTS16 ; LOC101929200
2 0.925 0.080 5 5289469 intron variant A/C;G snv 0.010 < 0.001 1 2014 2014
dbSNP: rs139382539
rs139382539
SALL4
1 1.000 0.040 20 51791942 missense variant C/T snv 4.5E-04 5.2E-04 0.010 1.000 1 2019 2019
dbSNP: rs755503899
rs755503899
SALL4
1 1.000 0.040 20 51790204 missense variant G/A snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs10046
rs10046
CYP19A1 ; MIR4713HG
18 0.708 0.400 15 51210789 3 prime UTR variant G/A snv 0.45 0.43 0.020 1.000 2 2011 2011
dbSNP: rs4646
rs4646
CYP19A1 ; MIR4713HG
16 0.716 0.360 15 51210647 3 prime UTR variant A/C snv 0.67 0.70 0.010 1.000 1 2011 2011
dbSNP: rs782609889
rs782609889
BMP15
2 0.925 0.080 X 50916386 missense variant T/G snv 0.010 1.000 1 2006 2006