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: rs2856321
rs2856321
ETV6
2 12 11702839 intron variant G/A snv 0.52 0.700 1.000 3 2010 2014
dbSNP: rs28929474
rs28929474
SERPINA1
37 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.700 1.000 3 2017 2019
dbSNP: rs3118905
rs3118905
DLEU1 ; DLEU7
2 13 50531198 intron variant G/A snv 0.21 0.700 1.000 3 2010 2019
dbSNP: rs3118906
rs3118906
DLEU1 ; DLEU7
2 13 50532652 intron variant G/A snv 0.21 0.700 1.000 3 2013 2019
dbSNP: rs3738814
rs3738814
ATP13A2
3 1 17005181 intron variant A/G snv 0.52 0.700 1.000 3 2010 2019
dbSNP: rs3769528
rs3769528
LTBP1
2 2 33246125 intron variant A/G snv 1.1E-02 0.700 1.000 3 2010 2019
dbSNP: rs3814333
rs3814333
COLGALT2
3 1 184037985 upstream gene variant C/T snv 0.29 0.700 1.000 3 2013 2019
dbSNP: rs41271299
rs41271299
ID4
3 6 19839184 intron variant C/A;G;T snv 0.700 1.000 3 2017 2019
dbSNP: rs422421
rs422421
FGFR4
2 5 177090325 intron variant T/C snv 0.83 0.79 0.700 1.000 3 2010 2017
dbSNP: rs4665736
rs4665736
DNAJC27
2 2 24964730 intron variant C/T snv 0.42 0.700 1.000 3 2010 2019
dbSNP: rs4800148
rs4800148
CABLES1
4 18 23144364 intron variant G/A;C snv 0.700 1.000 3 2008 2019
dbSNP: rs4821083
rs4821083
SYN3 ; LOC105373002
2 22 32660355 intron variant T/C snv 0.26 0.700 1.000 3 2010 2019
dbSNP: rs4842838
rs4842838
ADAMTSL3
3 15 83913372 missense variant G/A;T snv 1.6E-05; 0.61 0.700 1.000 3 2009 2019
dbSNP: rs4896582
rs4896582
ADGRG6
5 6 142382740 intron variant G/A snv 0.50 0.700 1.000 3 2008 2019
dbSNP: rs4986172
rs4986172
ACBD4
2 17 45138914 intron variant C/T snv 0.44 0.700 1.000 3 2010 2019
dbSNP: rs526896
rs526896
LOC107986452
2 5 135021015 intergenic variant T/A;G snv 0.700 1.000 3 2010 2015
dbSNP: rs5742915
rs5742915
PML
7 0.925 0.080 15 74044292 missense variant T/C;G snv 0.35; 4.0E-06 0.700 1.000 3 2010 2019
dbSNP: rs584438
rs584438
IGFBP4
2 17 40442920 upstream gene variant C/A;G;T snv 0.31 0.700 1.000 3 2013 2019
dbSNP: rs62621197
rs62621197
ADAMTS10
4 1.000 0.080 19 8605262 missense variant C/A;T snv 4.1E-06; 3.1E-02 2.9E-02 0.700 1.000 3 2017 2019
dbSNP: rs634552
rs634552
SERPINH1
2 11 75571007 intron variant T/G snv 0.77 0.700 1.000 3 2010 2019
dbSNP: rs6440003
rs6440003
ZBTB38
4 3 141375367 intron variant G/A snv 0.54 0.700 1.000 3 2008 2019
dbSNP: rs6684205
rs6684205
TGFB2
3 1 218436360 intron variant A/G;T snv 0.700 1.000 3 2010 2019
dbSNP: rs6830062
rs6830062
LCORL
2 4 18016107 intron variant T/C snv 0.25 0.700 1.000 3 2008 2019
dbSNP: rs7214743
rs7214743 		1 17 61420691 intergenic variant A/G;T snv 0.700 1.000 3 2018 2019
dbSNP: rs7513464
rs7513464 		1 1 118307139 regulatory region variant G/C snv 0.30 0.700 1.000 3 2015 2019