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: rs6590811
rs6590811
ARHGAP42
4 11 100708153 intron variant C/T snv 0.53 0.700 1.000 1 2018 2018
dbSNP: rs6590812
rs6590812
ARHGAP42
1 11 100711497 intron variant G/A snv 0.55 0.700 1.000 1 2018 2018
dbSNP: rs633185
rs633185
ARHGAP42
10 0.925 0.080 11 100722807 intron variant G/A;C snv 0.800 1.000 2 2011 2018
dbSNP: rs6590816
rs6590816
ARHGAP42
4 11 100730902 intron variant G/A snv 0.40 0.700 1.000 1 2018 2018
dbSNP: rs604723
rs604723
ARHGAP42
9 1.000 0.040 11 100739815 intron variant T/C snv 0.78 0.700 1.000 1 2018 2018
dbSNP: rs7801190
rs7801190
SLC12A9
2 1.000 0.040 7 100860471 non coding transcript exon variant C/G snv 9.9E-02 0.700 1.000 1 2011 2011
dbSNP: rs10895068
rs10895068
PGR ; PGR-AS1
14 0.752 0.240 11 101129483 5 prime UTR variant C/T snv 3.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs763351020
rs763351020
SERPINE1
35 0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06 0.020 0.500 2 2014 2018
dbSNP: rs104893831
rs104893831
VHL
4 0.925 0.040 3 10146549 missense variant G/A;C;T snv 2.0E-05 0.010 1.000 1 2014 2014
dbSNP: rs2228611
rs2228611
DNMT1
19 0.708 0.520 19 10156401 synonymous variant T/A;C snv 0.52 0.010 1.000 1 2018 2018
dbSNP: rs10860812
rs10860812
DRAM1
1 12 101894592 intron variant G/A snv 0.59 0.010 1.000 1 2013 2013
dbSNP: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs13107325
rs13107325
SLC39A8
34 0.776 0.520 4 102267552 missense variant C/A;T snv 4.0E-06; 4.5E-02 0.800 1.000 1 2011 2011
dbSNP: rs6219
rs6219
IGF1 ; HELLPAR ; LINC02456
2 1.000 0.080 12 102396414 3 prime UTR variant C/T snv 8.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs7136446
rs7136446
IGF1 ; LINC02456
8 0.882 0.160 12 102444737 intron variant C/T snv 0.66 0.010 1.000 1 2013 2013
dbSNP: rs35767
rs35767
IGF1 ; LOC105369944
13 0.763 0.360 12 102481791 upstream gene variant A/C;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs11568818
rs11568818
MMP7
15 0.763 0.280 11 102530930 upstream gene variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs176185
rs176185
WBP1L
1 10 102796297 intron variant G/C snv 0.82 0.010 1.000 1 2019 2019
dbSNP: rs281432
rs281432
ICAM1
12 0.851 0.280 19 10279982 intron variant C/G snv 0.52 0.010 1.000 1 2015 2015
dbSNP: rs104894145
rs104894145
CYP17A1 ; WBP1L ; CYP17A1-AS1
3 0.925 0.240 10 102830946 missense variant G/A snv 0.010 1.000 1 2004 2004
dbSNP: rs1004467
rs1004467
CYP17A1 ; CYP17A1-AS1
13 0.790 0.280 10 102834750 non coding transcript exon variant A/G snv 0.15 0.14 0.760 0.857 7 2011 2018
dbSNP: rs4919687
rs4919687
CYP17A1
14 0.742 0.160 10 102835491 non coding transcript exon variant G/A snv 0.25 0.010 1.000 1 2017 2017
dbSNP: rs138009835
rs138009835
CYP17A1 ; LOC107984264
1 10 102839238 intron variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs13175330
rs13175330
PAM
2 5 102840757 intron variant A/G snv 7.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs679620
rs679620
MMP3
17 0.716 0.360 11 102842889 missense variant T/C snv 0.58 0.57 0.020 1.000 2 2008 2014