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: 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: 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: 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: 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
dbSNP: rs1676484
rs1676484
LOC107985096
2 0.925 0.040 1 102839465 intron variant A/C snv 0.010 1.000 1 2019 2019
dbSNP: rs1900004
rs1900004
LINC02640
5 0.827 0.040 10 68241124 intron variant C/T snv 0.39 0.010 1.000 1 2014 2014
dbSNP: rs2156323
rs2156323
VAV2
3 0.882 0.040 9 133855699 intron variant G/A snv 9.2E-02 0.010 < 0.001 1 2010 2010
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: rs2754511
rs2754511
BIRC6
3 0.882 0.040 2 32545090 intron variant A/T snv 0.24 0.010 1.000 1 2014 2014
dbSNP: rs2801219
rs2801219
VAV3
3 0.882 0.040 1 107959790 intron variant C/A snv 0.62 0.010 < 0.001 1 2010 2010
dbSNP: rs3735520
rs3735520
HGF
4 0.851 0.040 7 81771623 upstream gene variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs3788317
rs3788317
TXNRD2
4 0.851 0.040 22 19902302 intron variant G/T snv 0.30 0.010 < 0.001 1 2013 2013
dbSNP: rs3793342
rs3793342
NOS3
4 0.851 0.040 7 150998107 intron variant G/A snv 0.13 0.010 1.000 1 2013 2013
dbSNP: rs4656461
rs4656461 		7 0.827 0.040 1 165717968 TF binding site variant G/A snv 0.85 0.010 1.000 1 2014 2014
dbSNP: rs5745718
rs5745718
HGF
3 0.882 0.040 7 81718232 intron variant T/G snv 0.82 0.010 1.000 1 2013 2013
dbSNP: rs576499843
rs576499843
VAV3
3 0.882 0.040 1 107617607 missense variant A/C;G snv 8.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs61732310
rs61732310
NTF4
3 0.882 0.040 19 49061735 missense variant G/A snv 4.5E-03 2.3E-03 0.010 1.000 1 2010 2010
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