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: 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: rs284491
rs284491
ZFPM2
2 0.925 0.040 8 104946405 intron variant C/T snv 0.45 0.700 1.000 1 2016 2016
dbSNP: rs2033008
rs2033008
NCK2
1 1.000 0.040 2 105886129 intron variant T/A snv 0.30 0.010 < 0.001 1 2013 2013
dbSNP: rs2041895
rs2041895
TMEM263
1 1.000 0.040 12 106956310 intron variant C/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs11241095
rs11241095
WDR36
3 0.925 0.040 5 111103810 missense variant A/C;G snv 0.33 0.010 1.000 1 2007 2007
dbSNP: rs1801253
rs1801253
ADRB1
34 0.683 0.440 10 114045297 missense variant G/C snv 0.74 0.69 0.010 1.000 1 2006 2006
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: rs4236601
rs4236601 		4 0.882 0.040 7 116522675 upstream gene variant G/A snv 0.28 0.010 < 0.001 1 2013 2013
dbSNP: rs7795356
rs7795356
COMETT
1 1.000 0.040 7 116576975 intron variant T/A;C snv 0.010 < 0.001 1 2013 2013
dbSNP: rs10759930
rs10759930 		1 1.000 0.040 9 117699343 upstream gene variant C/T snv 0.30 0.010 1.000 1 2008 2008
dbSNP: rs1927914
rs1927914
TLR4
14 0.732 0.520 9 117702447 upstream gene variant G/A snv 0.52 0.010 1.000 1 2008 2008
dbSNP: rs2149356
rs2149356
TLR4
14 0.742 0.360 9 117711921 intron variant T/G snv 0.54 0.020 1.000 2 2008 2019
dbSNP: rs7037117
rs7037117
TLR4
3 0.882 0.040 9 117721385 3 prime UTR variant A/G snv 0.40 0.010 1.000 1 2008 2008
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2009 2009
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 1.000 3 2009 2016
dbSNP: rs5370
rs5370
EDN1
37 0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21 0.010 1.000 1 2016 2016
dbSNP: rs7859156
rs7859156
LMX1B
4 0.851 0.040 9 126637749 intron variant T/C snv 0.74 0.010 1.000 1 2009 2009
dbSNP: rs7854658
rs7854658
LMX1B
3 0.882 0.040 9 126652659 intron variant G/A snv 0.26 0.010 1.000 1 2009 2009
dbSNP: rs28939688
rs28939688
OPTN
7 0.807 0.040 10 13109270 missense variant G/A snv 0.070 1.000 7 2003 2018
dbSNP: rs11258194
rs11258194
OPTN
9 0.776 0.160 10 13110400 missense variant T/A snv 4.4E-02 6.0E-02 0.060 1.000 6 2003 2007
dbSNP: rs749476057
rs749476057
OPTN
1 1.000 0.040 10 13122411 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs557678153
rs557678153
OPTN
1 1.000 0.040 10 13126017 missense variant T/C snv 4.8E-05 2.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs899115126
rs899115126
EDNRA
3 0.882 0.080 4 147542603 missense variant G/C snv 0.010 1.000 1 2016 2016
dbSNP: rs2070744
rs2070744
NOS3
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.020 1.000 2 2012 2017
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.020 1.000 2 2012 2016