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: rs74315336
rs74315336
MYOC ; MYOCOS
4 0.851 0.040 1 171636173 missense variant T/C snv 0.020 1.000 2 2003 2007
dbSNP: rs121909194
rs121909194
MYOC ; MYOCOS
3 0.882 0.040 1 171636302 missense variant C/G snv 0.010 1.000 1 2007 2007
dbSNP: rs2234926
rs2234926
MYOC
3 0.882 0.040 1 171652385 missense variant C/T snv 0.15 0.11 0.030 0.667 3 2001 2008
dbSNP: rs1056836
rs1056836
CYP1B1
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.010 1.000 1 2008 2008
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2007 2009
dbSNP: rs1135840
rs1135840
CYP2D6 ; NDUFA6-DT
8 0.807 0.200 22 42126611 missense variant C/G snv 0.58 0.010 1.000 1 2009 2009
dbSNP: rs386741044
rs386741044
OPTN
1 1.000 0.040 10 13124076 missense variant G/A;C snv 0.010 1.000 1 2009 2009
dbSNP: rs523747
rs523747
OPTN
1 1.000 0.040 10 13124076 missense variant G/A;C snv 7.1E-03 0.010 1.000 1 2009 2009
dbSNP: rs11258194
rs11258194
OPTN
9 0.776 0.160 10 13110400 missense variant T/A snv 4.4E-02 6.0E-02 0.050 0.600 5 2004 2010
dbSNP: rs16947
rs16947
CYP2D6 ; NDUFA6-DT
5 0.882 0.040 22 42127941 missense variant G/A;T snv 0.020 1.000 2 2009 2010
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: rs1256031
rs1256031
ESR2
9 0.790 0.200 14 64279461 intron variant G/A;T snv 0.57 0.010 1.000 1 2010 2010
dbSNP: rs1463461589
rs1463461589
NTF4
1 1.000 0.040 19 49061660 missense variant A/G snv 1.4E-05 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: rs1800779
rs1800779
NOS3
9 0.763 0.320 7 150992855 intron variant G/A;C snv 0.010 1.000 1 2010 2010
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: 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: 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: rs75864656
rs75864656
COL8A2
2 0.925 0.080 1 36099217 missense variant C/G;T snv 7.4E-06; 2.6E-02 0.010 1.000 1 2010 2010
dbSNP: rs74315330
rs74315330
MYOC ; MYOCOS
9 0.776 0.080 1 171636331 missense variant G/A snv 0.050 1.000 5 2002 2011
dbSNP: rs74315332
rs74315332
MYOC ; MYOCOS
3 0.882 0.040 1 171636000 missense variant G/T snv 0.030 1.000 3 1998 2011
dbSNP: rs3918188
rs3918188
NOS3
10 0.776 0.280 7 151005693 intron variant C/A;T snv 0.020 < 0.001 2 2011 2011
dbSNP: rs754203
rs754203
CYP46A1
6 0.807 0.200 14 99691630 non coding transcript exon variant A/G snv 0.27 0.020 1.000 2 2009 2011
dbSNP: rs10063949
rs10063949
SLC23A1
4 0.882 0.080 5 139383837 intron variant T/C snv 0.48 0.010 < 0.001 1 2011 2011