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: rs1064793994
rs1064793994
CHD7
1 1.000 8 60742393 stop gained G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs11074359
rs11074359
COQ7
1 1.000 16 19073976 missense variant C/A;T snv 0.63 0.010 1.000 1 2017 2017
dbSNP: rs1176235580
rs1176235580
MTO1
3 0.925 0.120 6 73482214 missense variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs138490803
rs138490803
COQ7
3 0.925 0.120 16 19074000 missense variant T/C snv 8.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs139449947
rs139449947
MTO1
3 0.925 0.120 6 73482463 missense variant G/A snv 9.6E-05 9.8E-05 0.010 1.000 1 2003 2003
dbSNP: rs751989516
rs751989516
PHC1
2 1.000 12 8932951 synonymous variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs769985775
rs769985775
DMD
6 0.851 0.160 X 32448630 synonymous variant T/C snv 5.7E-06 9.5E-06 0.010 1.000 1 2017 2017