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: rs1554944271
rs1554944271
DEAF1
14 0.851 0.240 11 686925 missense variant C/G snv 0.700 1.000 1 2017 2017
dbSNP: rs1553525325
rs1553525325
SCN1A ; SCN1A-AS1 ; LOC102724058
9 0.807 0.120 2 166002716 missense variant A/T snv 0.700 0
dbSNP: rs143383
rs143383
GDF5
17 0.724 0.320 20 35438203 5 prime UTR variant G/A snv 0.47 0.040 1.000 4 2010 2018
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.020 1.000 2 2015 2017
dbSNP: rs1800796
rs1800796
IL6 ; STEAP1B ; IL6-AS1
74 0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02 0.020 1.000 2 2015 2017
dbSNP: rs726252
rs726252
PAPPA2
1 1.000 0.080 1 176691111 3 prime UTR variant C/T snv 0.55 0.020 1.000 2 2012 2014
dbSNP: rs1022313
rs1022313
CCN6
1 1.000 0.080 6 112053741 upstream gene variant G/A snv 0.22 0.010 1.000 1 2018 2018
dbSNP: rs10456877
rs10456877
TUBE1
1 1.000 0.080 6 112078547 non coding transcript exon variant C/T snv 0.28 0.010 1.000 1 2018 2018
dbSNP: rs11718863
rs11718863
COL6A4P1
3 0.882 0.080 3 15175196 non coding transcript exon variant A/G;T snv 0.21 0.010 1.000 1 2011 2011
dbSNP: rs1230345
rs1230345
CCN6
1 1.000 0.080 6 112061110 missense variant G/A;C;T snv 0.26 0.32 0.010 1.000 1 2018 2018
dbSNP: rs143384
rs143384
GDF5
17 0.827 0.200 20 35437976 5 prime UTR variant G/A snv 0.44 0.010 1.000 1 2020 2020
dbSNP: rs1569198
rs1569198
DKK1
4 0.851 0.200 10 52316511 intron variant A/G snv 0.41 0.42 0.010 1.000 1 2014 2014
dbSNP: rs17073268
rs17073268
CCN6
1 1.000 0.080 6 112062577 intron variant G/A snv 0.24 0.010 1.000 1 2018 2018
dbSNP: rs2303486
rs2303486
HOXB7 ; HOXB9
1 1.000 0.080 17 48622307 3 prime UTR variant A/T snv 0.47 0.010 1.000 1 2014 2014
dbSNP: rs3744438
rs3744438
TBX4
1 1.000 0.080 17 61480239 missense variant C/A;T snv 4.0E-06; 0.14 0.010 1.000 1 2010 2010
dbSNP: rs3744448
rs3744448
TBX4
1 1.000 0.080 17 61456507 missense variant G/C;T snv 0.17; 1.1E-05 0.010 1.000 1 2010 2010
dbSNP: rs3782499
rs3782499
WIF1
1 1.000 0.080 12 65072872 intron variant T/C snv 6.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs6060373
rs6060373
UQCC1
4 0.925 0.200 20 35326405 intron variant A/G snv 0.49 0.010 1.000 1 2015 2015
dbSNP: rs61746008
rs61746008
FBN1
3 0.882 0.160 15 48412619 missense variant G/A;C snv 7.3E-04 0.010 < 0.001 1 2009 2009
dbSNP: rs61930502
rs61930502 		1 1.000 0.080 12 113547623 regulatory region variant A/G snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs711819
rs711819
HOXD9
1 1.000 0.080 2 176120968 upstream gene variant T/C snv 0.82 0.010 1.000 1 2012 2012
dbSNP: rs763098832
rs763098832
COMP
3 0.882 0.120 19 18783189 missense variant G/C;T snv 4.1E-06 0.010 1.000 1 2019 2019
dbSNP: rs7639618
rs7639618
COL6A4P1
3 0.882 0.080 3 15174922 non coding transcript exon variant C/T snv 0.22 0.18 0.010 1.000 1 2011 2011
dbSNP: rs764256352
rs764256352
SLC26A2
3 0.882 0.120 5 149981625 missense variant G/C snv 4.0E-06 2.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs867986409
rs867986409
COMP
3 0.882 0.120 19 18784246 missense variant C/T snv 8.0E-06 0.010 1.000 1 2019 2019