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: rs74315338
rs74315338
MYOC ; MYOCOS
3 0.882 0.040 1 171636143 missense variant A/G snv 0.020 1.000 2 2003 2018
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 < 0.001 1 2003 2003
dbSNP: rs10451941
rs10451941
OPA1
3 0.882 0.160 3 193637313 intron variant T/A;C snv 0.42 0.010 < 0.001 1 2017 2017
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2016 2016
dbSNP: rs1052990
rs1052990
CAV2
3 0.882 0.040 7 116508316 3 prime UTR variant T/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs1056837
rs1056837
CYP1B1
1 1.000 0.040 2 38071007 missense variant A/G;T snv 0.63 0.010 < 0.001 1 2015 2015
dbSNP: rs1057519378
rs1057519378
CARD10
1 1.000 0.040 22 37516037 missense variant C/A;T snv 4.4E-06; 8.7E-06 0.700 1.000 1 2016 2016
dbSNP: rs11241095
rs11241095
WDR36
3 0.925 0.040 5 111103810 missense variant A/C;G snv 0.33 0.010 1.000 1 2017 2017
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: rs1130409
rs1130409
APEX1
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2015 2015
dbSNP: rs1171063544
rs1171063544
ASB10
1 1.000 0.040 7 151181278 synonymous variant G/A snv 4.0E-06 0.010 1.000 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: rs12377632
rs12377632
TLR4
5 0.827 0.120 9 117710452 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs12436579
rs12436579 		1 1.000 0.040 14 60516369 intron variant C/A;G snv 0.010 < 0.001 1 2019 2019
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
dbSNP: rs1315538274
rs1315538274
MUL1
1 1.000 0.040 1 20503285 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2011 2011
dbSNP: rs143413116
rs143413116
MYOC
1 1.000 0.040 1 171652341 stop gained G/A snv 3.2E-05 0.010 1.000 1 2000 2000
dbSNP: rs166850
rs166850
OPA1
2 0.925 0.160 3 193637285 splice region variant T/A;C snv 0.87 0.010 < 0.001 1 2017 2017
dbSNP: rs1800440
rs1800440
CYP1B1
29 0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06 0.010 1.000 1 2005 2005
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: rs184561087
rs184561087
OPTN
2 0.925 0.120 10 13110394 missense variant G/A;T snv 3.6E-05; 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs199476128
rs199476128
ATP8 ; COX1 ; COX2
1 1.000 0.040 MT 6480 missense variant G/A snv 0.010 1.000 1 2016 2016
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: rs200165736
rs200165736
COX1 ; COX2
1 1.000 0.040 MT 6253 missense variant T/C snv 0.010 1.000 1 2016 2016