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: rs143268013
rs143268013
CAVIN4
1 1.000 0.040 9 100578527 missense variant C/G snv 1.2E-04 3.4E-04 0.010 1.000 1 2011 2011
dbSNP: rs751703046
rs751703046
CAVIN4
1 1.000 0.040 9 100586276 missense variant G/C snv 9.9E-05 4.9E-05 0.010 1.000 1 2011 2011
dbSNP: rs777846521
rs777846521
FHL2
1 1.000 0.040 2 105386375 missense variant C/G;T snv 8.0E-06; 3.2E-05 0.010 1.000 1 2007 2007
dbSNP: rs9034
rs9034
NAMPT
5 0.827 0.200 7 106249610 3 prime UTR variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs61330082
rs61330082
NAMPT
13 0.732 0.320 7 106286419 upstream gene variant G/A snv 0.22 0.010 1.000 1 2015 2015
dbSNP: rs397516607
rs397516607
RBM20
4 0.925 0.040 10 110821356 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs794729157
rs794729157
RBM20
1 1.000 0.040 10 110821710 stop gained G/T snv 0.010 1.000 1 2018 2018
dbSNP: rs141638421
rs141638421
CRYAB
4 0.882 0.080 11 111908822 missense variant C/T snv 7.2E-05 4.9E-05 0.010 1.000 1 2006 2006
dbSNP: rs1846594
rs1846594 		2 0.925 0.120 3 113197356 intergenic variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1801252
rs1801252
ADRB1
17 0.724 0.320 10 114044277 missense variant A/G snv 0.15 0.17 0.020 1.000 2 2012 2012
dbSNP: rs1801253
rs1801253
ADRB1
34 0.683 0.440 10 114045297 missense variant G/C snv 0.74 0.69 0.020 1.000 2 2002 2012
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2012 2012
dbSNP: rs74676849
rs74676849 		1 1.000 0.040 7 11849866 intergenic variant A/G snv 2.6E-02 0.700 1.000 1 2018 2018
dbSNP: rs111033559
rs111033559
PLN ; CEP85L
4 0.925 0.040 6 118558946 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs761056344
rs761056344
PLN ; CEP85L
3 0.925 0.080 6 118558994 missense variant C/G;T snv 4.0E-06; 3.2E-05 0.020 1.000 2 2015 2018
dbSNP: rs2234962
rs2234962
BAG3
3 1.000 0.040 10 119670121 missense variant T/C snv 0.17 0.15 0.010 1.000 1 2011 2011
dbSNP: rs397516881
rs397516881
BAG3
7 0.827 0.120 10 119676917 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs397514507
rs397514507
BAG3
2 0.925 0.040 10 119676939 missense variant T/C snv 0.010 1.000 1 2011 2011
dbSNP: rs387906876
rs387906876
BAG3
2 0.925 0.040 10 119676984 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs4758680
rs4758680
LRRC43
9 0.763 0.320 12 122170805 intron variant T/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs7977932
rs7977932
LRRC43 ; IL31
10 0.763 0.320 12 122172836 intron variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs150035515
rs150035515
EDN1
1 1.000 0.040 6 12292366 synonymous variant G/A;T snv 7.0E-04; 5.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs149399492
rs149399492
EDN1
1 1.000 0.040 6 12292395 missense variant C/A;G;T snv 5.6E-05; 2.0E-05; 3.1E-04 0.010 1.000 1 2014 2014
dbSNP: rs757677006
rs757677006
LMOD2
1 1.000 0.040 7 123662779 stop gained G/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1175271580
rs1175271580
LMOD2
1 1.000 0.040 7 123662780 stop gained G/A;T snv 0.010 1.000 1 2019 2019