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: rs11656696
rs11656696
GAS7
5 0.882 0.040 17 10130362 intron variant C/A snv 0.36 0.020 0.500 2 2017 2019
dbSNP: rs747058633
rs747058633
HSP90AA1
2 0.925 0.040 14 102083827 missense variant T/C snv 4.0E-06 2.8E-05 0.010 1.000 1 2011 2011
dbSNP: rs781662103
rs781662103
MMP1 ; WTAPP1
1 1.000 0.040 11 102797141 synonymous variant A/G snv 8.0E-06 1.4E-05 0.030 1.000 3 2011 2015
dbSNP: rs1799750
rs1799750
MMP1 ; WTAPP1
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.020 1.000 2 2013 2017
dbSNP: rs2472493
rs2472493
LOC105376196
5 0.851 0.040 9 104933567 downstream gene variant G/A snv 0.61 0.010 1.000 1 2014 2014
dbSNP: rs576499843
rs576499843
VAV3
3 0.882 0.040 1 107617607 missense variant A/C;G snv 8.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1466441587
rs1466441587
VAV3
3 0.882 0.040 1 107874935 missense variant G/A snv 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs2801219
rs2801219
VAV3
3 0.882 0.040 1 107959790 intron variant C/A snv 0.62 0.010 < 0.001 1 2010 2010
dbSNP: rs757228
rs757228
GPX4
2 0.925 0.120 19 1101993 upstream gene variant A/G snv 0.54 0.010 < 0.001 1 2013 2013
dbSNP: rs145437203
rs145437203
WDR36
1 1.000 0.040 5 111092362 missense variant T/C snv 7.2E-03; 4.0E-06 7.6E-03 0.010 1.000 1 2011 2011
dbSNP: rs10038177
rs10038177
WDR36
3 0.925 0.040 5 111100751 intron variant C/T snv 0.53 0.54 0.010 1.000 1 2017 2017
dbSNP: rs11241095
rs11241095
WDR36
3 0.925 0.040 5 111103810 missense variant A/C;G snv 0.33 0.010 1.000 1 2017 2017
dbSNP: rs34595252
rs34595252
WDR36
2 0.925 0.040 5 111119021 missense variant A/G snv 4.3E-03 4.5E-03 0.010 1.000 1 2006 2006
dbSNP: rs13186912
rs13186912
WDR36
2 1.000 0.040 5 111121006 synonymous variant A/T snv 0.33 0.26 0.010 1.000 1 2011 2011
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs197388
rs197388
DDX20 ; INKA2 ; LOC101928718
2 0.925 0.040 1 111754860 non coding transcript exon variant A/T snv 0.27 0.010 1.000 1 2018 2018
dbSNP: rs1052990
rs1052990
CAV2
3 0.882 0.040 7 116508316 3 prime UTR variant T/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs17588172
rs17588172 		2 0.925 0.040 7 116513961 intergenic variant T/G snv 0.35 0.010 1.000 1 2014 2014
dbSNP: rs4236601
rs4236601 		4 0.882 0.040 7 116522675 upstream gene variant G/A snv 0.28 0.080 1.000 8 2011 2018
dbSNP: rs3801994
rs3801994
CAV1
1 1.000 0.040 7 116550415 intron variant G/A snv 7.0E-02 0.010 1.000 1 2016 2016
dbSNP: rs185815146
rs185815146
ENO4
1 1.000 0.040 10 116864069 intron variant G/A snv 2.9E-03 0.010 1.000 1 2019 2019
dbSNP: rs1927911
rs1927911
TLR4
28 0.658 0.640 9 117707776 intron variant A/G snv 0.62 0.010 1.000 1 2017 2017
dbSNP: rs12377632
rs12377632
TLR4
5 0.827 0.120 9 117710452 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs2149356
rs2149356
TLR4
14 0.742 0.360 9 117711921 intron variant T/G snv 0.54 0.040 1.000 4 2012 2020
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.030 1.000 3 2017 2019