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: rs74315329
rs74315329
MYOC ; MYOCOS
15 0.732 0.240 1 171636338 stop gained G/A snv 1.1E-03 8.7E-04 0.800 0.964 28 1997 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.080 0.875 8 2005 2016
dbSNP: rs566289099
rs566289099
MYOC ; MYOCOS
6 0.807 0.080 1 171636310 missense variant G/A snv 2.0E-05 3.5E-05 0.060 1.000 6 2003 2012
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: rs137853277
rs137853277
MYOC ; MYOCOS
3 0.925 0.040 1 171636382 missense variant G/A snv 7.0E-04 3.1E-04 0.040 1.000 4 2000 2012
dbSNP: rs74315337
rs74315337
MYOC
2 0.925 0.040 1 171652476 stop gained G/A;C;T snv 7.2E-04; 4.0E-06; 4.0E-06 0.040 1.000 4 2000 2012
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: rs4656461
rs4656461 		7 0.827 0.040 1 165717968 TF binding site variant G/A snv 0.85 0.030 1.000 3 2012 2015
dbSNP: rs74315328
rs74315328
MYOC ; MYOCOS
6 0.807 0.120 1 171636131 missense variant A/G snv 0.030 1.000 3 2011 2019
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: rs74315339
rs74315339
MYOC
6 0.807 0.120 1 171652468 missense variant C/A snv 9.8E-04 1.3E-04 0.030 1.000 3 2005 2012
dbSNP: rs1192415
rs1192415 		4 0.925 0.040 1 91611540 TF binding site variant G/A snv 0.81 0.020 1.000 2 2015 2015
dbSNP: rs199752860
rs199752860
MYOC
2 0.925 0.040 1 171652578 missense variant C/G snv 6.9E-04 1.5E-04 0.020 1.000 2 2000 2002
dbSNP: rs2234927
rs2234927
MYOC ; MYOCOS
4 0.851 0.040 1 171638703 missense variant G/A;C snv 4.0E-06; 7.6E-04 0.020 1.000 2 2000 2001
dbSNP: rs3219489
rs3219489
MUTYH
24 0.672 0.360 1 45331833 missense variant C/A;G snv 0.29 0.27 0.020 1.000 2 2013 2015
dbSNP: rs369410616
rs369410616
MUTYH
10 0.752 0.280 1 45329400 missense variant C/T snv 2.0E-05 2.8E-05 0.020 1.000 2 2013 2015
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2007 2009
dbSNP: rs74315334
rs74315334
MYOC ; MYOCOS
4 0.851 0.040 1 171636341 missense variant C/T snv 0.020 1.000 2 2000 2003
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: rs74315338
rs74315338
MYOC ; MYOCOS
3 0.882 0.040 1 171636143 missense variant A/G snv 0.020 1.000 2 2003 2018
dbSNP: rs754237376
rs754237376
MYOC ; MYOCOS
3 0.882 0.080 1 171636161 missense variant C/T snv 4.8E-05 2.1E-05 0.020 1.000 2 2007 2015
dbSNP: rs112983858
rs112983858
CD48
1 1.000 0.040 1 160681172 frameshift variant C/-;CC;CCC delins 5.2E-05 0.010 < 0.001 1 2002 2002
dbSNP: rs12025126
rs12025126
RERE
2 0.925 0.040 1 8699495 intron variant T/C snv 0.26 0.010 < 0.001 1 2012 2012
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: rs1270841723
rs1270841723
MYOC ; MYOCOS
1 1.000 0.040 1 171636185 missense variant T/C snv 4.0E-06 0.010 1.000 1 2019 2019