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: rs12138977
rs12138977
COL11A1
2 0.925 0.040 1 102927901 intron variant C/T snv 0.52 0.030 1.000 3 2014 2019
dbSNP: rs1258267
rs1258267
C10orf53
2 0.925 0.040 10 49687724 intron variant G/A snv 0.95 0.720 1.000 3 2016 2019
dbSNP: rs736893
rs736893
GLIS3
2 0.925 0.040 9 4217028 intron variant G/A;C snv 0.720 1.000 3 2016 2019
dbSNP: rs7494379
rs7494379
FERMT2
2 0.925 0.040 14 52944673 intron variant C/G;T snv 0.720 1.000 3 2016 2019
dbSNP: rs17427817
rs17427817
HGF
2 0.925 0.040 7 81735119 intron variant C/A;G;T snv 0.020 1.000 2 2013 2018
dbSNP: rs183532
rs183532
MYOC
2 0.925 0.040 1 171640341 intron variant T/A;C snv 0.020 1.000 2 2015 2019
dbSNP: rs235875
rs235875
MYOC
2 0.925 0.040 1 171644616 intron variant C/T snv 0.16 0.020 1.000 2 2015 2019
dbSNP: rs3739821
rs3739821
DPM2 ; FAM102A
2 0.925 0.040 9 127940198 non coding transcript exon variant A/G snv 0.61 0.710 1.000 2 2016 2019
dbSNP: rs3816415
rs3816415
SFRP4 ; EPDR1
2 0.925 0.040 7 37948709 intron variant G/A snv 0.12 0.710 1.000 2 2016 2019
dbSNP: rs1132776
rs1132776
ABCC5
2 0.925 0.040 3 183978614 synonymous variant A/G snv 0.58 0.61 0.010 1.000 1 2017 2017
dbSNP: rs1157699
rs1157699
CALCRL ; LOC105373786
2 0.925 0.040 2 187394177 intron variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs12493550
rs12493550
HTR3D
2 0.925 0.040 3 184034985 intron variant G/A snv 6.3E-02 0.010 1.000 1 2017 2017
dbSNP: rs12540393
rs12540393
HGF
2 0.925 0.040 7 81734871 intron variant C/T snv 0.77 0.010 1.000 1 2018 2018
dbSNP: rs1676484
rs1676484
LOC107985096
2 0.925 0.040 1 102839465 intron variant A/C snv 0.010 1.000 1 2019 2019
dbSNP: rs216489
rs216489
PLEKHA7
2 0.925 0.040 11 16802189 intron variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs235913
rs235913
MYOC
2 0.925 0.040 1 171649516 intron variant T/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs6759535
rs6759535
CALCRL ; LOC105373786
2 0.925 0.040 2 187373374 intron variant T/C snv 0.52 0.010 1.000 1 2009 2009
dbSNP: rs7290117
rs7290117
ZNRF3
2 0.925 0.040 22 29054868 3 prime UTR variant C/G;T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs756459094
rs756459094
MMP1 ; WTAPP1
2 0.925 0.040 11 102795237 missense variant T/A;C;G snv 1.6E-05; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs840617
rs840617
CALCRL ; LOC105373786
2 0.925 0.040 2 187365606 intron variant A/T snv 0.80 0.010 1.000 1 2009 2009
dbSNP: rs939336
rs939336
ABCC5
2 0.925 0.040 3 183967746 stop gained A/G;T snv 0.58 0.010 1.000 1 2017 2017
dbSNP: rs983667
rs983667
SLC38A4
2 0.925 0.040 12 46769523 intron variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs11669977
rs11669977
NTF4
3 0.882 0.040 19 49060867 non coding transcript exon variant A/G snv 0.17 0.010 1.000 1 2010 2010
dbSNP: rs11720822
rs11720822
PDIA5
3 0.882 0.040 3 123150194 intron variant C/T snv 8.6E-02 6.6E-02 0.010 1.000 1 2014 2014
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