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 0.030 1.000 3 2001 2017
dbSNP: rs566289099
rs566289099
MYOC ; MYOCOS
6 0.807 0.080 1 171636310 missense variant G/A snv 2.0E-05 3.5E-05 0.020 1.000 2 2003 2012
dbSNP: rs2761884
rs2761884
BMP4
3 0.925 0.120 14 53954334 intron variant G/T snv 0.34 0.010 < 0.001 1 2012 2012
dbSNP: rs4986888
rs4986888
CYP1B1
2 0.925 0.040 2 38071026 missense variant G/A;C snv 4.4E-03 0.010 1.000 1 2006 2006
dbSNP: rs56149945
rs56149945
NR3C1
49 0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02 0.010 1.000 1 2007 2007
dbSNP: rs74315328
rs74315328
MYOC ; MYOCOS
6 0.807 0.120 1 171636131 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs7854658
rs7854658
LMX1B
3 0.882 0.040 9 126652659 intron variant G/A snv 0.26 0.010 1.000 1 2009 2009
dbSNP: rs7859156
rs7859156
LMX1B
4 0.851 0.040 9 126637749 intron variant T/C snv 0.74 0.010 1.000 1 2009 2009