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 1.000 11 1998 2019
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 2008
dbSNP: rs74315328
rs74315328
MYOC ; MYOCOS
6 0.807 0.120 1 171636131 missense variant A/G snv 0.050 1.000 5 2003 2019
dbSNP: rs74315330
rs74315330
MYOC ; MYOCOS
9 0.776 0.080 1 171636331 missense variant G/A snv 0.030 1.000 3 1998 2009
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 0.030 1.000 3 2000 2004
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 2005
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: rs4656461
rs4656461 		7 0.827 0.040 1 165717968 TF binding site variant G/A snv 0.85 0.810 1.000 2 2011 2012
dbSNP: rs74315341
rs74315341
MYOC ; MYOCOS
4 0.851 0.040 1 171636686 missense variant C/T snv 0.020 1.000 2 2007 2018
dbSNP: rs10918274
rs10918274
TMCO1
2 1.000 0.040 1 165745179 intron variant T/C snv 0.89 0.700 1.000 1 2018 2018
dbSNP: rs121909193
rs121909193
MYOC ; MYOCOS
2 0.925 0.040 1 171636349 missense variant C/A snv 0.010 1.000 1 2006 2006
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: rs140967767
rs140967767
MYOC ; MYOCOS
2 0.925 0.040 1 171636106 missense variant G/A snv 1.9E-04 3.4E-04 0.010 1.000 1 2011 2011
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2019 2019
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2019 2019
dbSNP: rs197388
rs197388
DDX20 ; INKA2 ; LOC101928718
2 0.925 0.040 1 111754860 non coding transcript exon variant A/T snv 0.27 0.010 1.000 1 2018 2018
dbSNP: rs199746824
rs199746824
MYOC
6 0.807 0.040 1 171652139 missense variant C/G;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 2001 2001
dbSNP: rs199752860
rs199752860
MYOC
2 0.925 0.040 1 171652578 missense variant C/G snv 6.9E-04 1.5E-04 0.010 1.000 1 2000 2000
dbSNP: rs200208925
rs200208925
MYOC
2 0.925 0.040 1 171652454 missense variant A/G snv 6.4E-05 2.1E-05 0.010 1.000 1 2009 2009
dbSNP: rs200547613
rs200547613
MYOC ; MYOCOS
2 0.925 0.040 1 171638675 missense variant C/T snv 4.8E-05 1.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs2234926
rs2234926
MYOC
3 0.882 0.040 1 171652385 missense variant C/T snv 0.15 0.11 0.010 1.000 1 2008 2008
dbSNP: rs2234927
rs2234927
MYOC ; MYOCOS
4 0.851 0.040 1 171638703 missense variant G/A;C snv 4.0E-06; 7.6E-04 0.010 1.000 1 2000 2000
dbSNP: rs3753841
rs3753841
COL11A1
7 0.827 0.080 1 102914362 missense variant G/A snv 0.61 0.49 0.700 1.000 1 2012 2012
dbSNP: rs3766355
rs3766355
PTGFR
3 0.882 0.040 1 78491756 intron variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs547984
rs547984 		3 0.882 0.040 1 237933586 intergenic variant A/C snv 0.60 0.010 1.000 1 2017 2017