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: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2019 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2014 2016
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2019 2019
dbSNP: rs1013278
rs1013278 		1 1.000 0.040 7 117963766 regulatory region variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs2188836
rs2188836 		2 1.000 0.040 7 117995328 downstream gene variant C/T snv 0.41 0.700 1.000 1 2018 2018
dbSNP: rs58073046
rs58073046
ARHGEF12
2 1.000 0.040 11 120377784 intron variant A/G snv 8.7E-02 0.700 1.000 1 2018 2018
dbSNP: rs11217878
rs11217878
ARHGEF12
2 1.000 0.040 11 120469674 intron variant G/A snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs1554200992
rs1554200992
GJA1
2 0.925 0.160 6 121446966 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs17653265
rs17653265
GJA1
2 1.000 0.040 6 121447605 missense variant C/T snv 8.1E-03 9.1E-03 0.010 1.000 1 2006 2006
dbSNP: rs548246291
rs548246291
SDF4 ; B3GALT6
1 1.000 0.040 1 1232945 missense variant G/A snv 4.0E-05 2.8E-05 0.010 1.000 1 2015 2015
dbSNP: rs6478746
rs6478746 		3 0.925 0.040 9 126605119 intron variant G/A snv 0.72 0.700 1.000 1 2018 2018
dbSNP: rs12377624
rs12377624
LOC105376277
2 1.000 0.040 9 126610831 intron variant G/C snv 0.28 0.700 1.000 1 2018 2018
dbSNP: rs945686
rs945686
LMX1B
1 1.000 0.040 9 126615747 intron variant G/C;T snv 0.700 1.000 1 2018 2018
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: rs7924522
rs7924522
ETS1
2 1.000 0.040 11 128510847 intron variant C/A snv 0.70 0.700 1.000 1 2018 2018
dbSNP: rs200710076
rs200710076
OPTN
2 0.925 0.040 10 13109198 missense variant C/A;G;T snv 8.0E-06; 2.0E-05; 2.4E-05 0.010 1.000 1 2004 2004
dbSNP: rs28939688
rs28939688
OPTN
7 0.807 0.040 10 13109270 missense variant G/A snv 0.060 1.000 6 2005 2019
dbSNP: rs11258194
rs11258194
OPTN
9 0.776 0.160 10 13110400 missense variant T/A snv 4.4E-02 6.0E-02 0.050 0.600 5 2004 2016
dbSNP: rs267606929
rs267606929
OPTN
5 0.827 0.120 10 13132098 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs75654767
rs75654767
OPTN
4 0.851 0.040 10 13136766 missense variant G/A snv 3.1E-03 1.0E-03 0.010 < 0.001 1 2007 2007
dbSNP: rs4241366
rs4241366
SLCO2A1
2 0.925 0.040 3 134031326 intron variant G/A;C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs9494457
rs9494457
PDE7B
2 1.000 0.040 6 136153656 intron variant T/A snv 0.39 0.700 1.000 1 2018 2018
dbSNP: rs540694424
rs540694424
CNTNAP2
1 1.000 0.040 7 146650935 intron variant G/C;T snv 0.700 1.000 1 2018 2018