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: 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: rs1799750
rs1799750
MMP1 ; WTAPP1
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.010 1.000 1 2013 2013
dbSNP: rs1676484
rs1676484
LOC107985096
2 0.925 0.040 1 102839465 intron variant A/C snv 0.010 1.000 1 2019 2019
dbSNP: rs1676486
rs1676486
COL11A1
7 0.851 0.120 1 102888582 missense variant A/G;T snv 0.80; 4.0E-06 0.020 1.000 2 2014 2019
dbSNP: rs3753841
rs3753841
COL11A1
7 0.827 0.080 1 102914362 missense variant G/A snv 0.61 0.49 0.780 1.000 9 2013 2019
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: 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: 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: 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: 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: 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: 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: 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: 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: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2015 2015
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: rs216489
rs216489
PLEKHA7
2 0.925 0.040 11 16802189 intron variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs11024102
rs11024102
PLEKHA7
7 0.851 0.040 11 16987058 intron variant T/C snv 0.20 0.790 0.900 10 2013 2019
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: rs235913
rs235913
MYOC
2 0.925 0.040 1 171649516 intron variant T/C;G snv 0.010 1.000 1 2015 2015
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: 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: 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: 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