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: 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: rs554235897
rs554235897
MYOC ; MYOCOS
2 0.925 0.040 1 171636028 missense variant T/C snv 2.8E-05 0.010 1.000 1 2002 2002
dbSNP: rs748621461
rs748621461
MYOC ; MYOCOS
2 0.925 0.040 1 171636542 missense variant C/T snv 3.2E-05 2.1E-05 0.010 1.000 1 2002 2002
dbSNP: rs751497460
rs751497460
CD48
1 1.000 0.040 1 160681173 frameshift variant -/T ins 5.6E-05 0.010 < 0.001 1 2002 2002
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: 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: 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: rs1800888
rs1800888
ADRB2
23 0.695 0.400 5 148827322 missense variant C/T snv 9.1E-03 9.1E-03 0.010 < 0.001 1 2003 2003
dbSNP: rs755246983
rs755246983
MYOC
2 0.925 0.040 1 171652539 missense variant A/G snv 8.0E-06; 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs11258194
rs11258194
OPTN
9 0.776 0.160 10 13110400 missense variant T/A snv 4.4E-02 6.0E-02 0.050 0.600 5 2004 2010
dbSNP: rs74315331
rs74315331
MYOC ; MYOCOS
3 0.882 0.040 1 171636010 missense variant A/C;T snv 0.010 1.000 1 2004 2004
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: 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: rs1255428605
rs1255428605
OPA1 ; LOC102724808
1 1.000 0.040 3 193647160 missense variant A/G snv 7.0E-06 0.010 < 0.001 1 2005 2005
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: rs34595252
rs34595252
WDR36
2 0.925 0.040 5 111119021 missense variant A/G snv 4.3E-03 4.5E-03 0.010 1.000 1 2006 2006
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2007 2009
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: rs121909194
rs121909194
MYOC ; MYOCOS
3 0.882 0.040 1 171636302 missense variant C/G snv 0.010 1.000 1 2007 2007
dbSNP: rs2165241
rs2165241
LOXL1 ; LOXL1-AS1
15 0.716 0.360 15 73929861 intron variant T/C snv 0.60 0.070 0.857 7 2008 2015
dbSNP: rs3825942
rs3825942
LOXL1 ; LOXL1-AS1
15 0.716 0.320 15 73927241 missense variant G/A;C;T snv 0.18; 4.5E-06 0.070 0.571 7 2008 2015
dbSNP: rs1048661
rs1048661
LOXL1 ; LOXL1-AS1
14 0.732 0.320 15 73927205 missense variant G/T snv 0.33 0.28 0.060 0.833 6 2008 2015
dbSNP: rs1056836
rs1056836
CYP1B1
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.010 1.000 1 2008 2008
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.040 0.750 4 2009 2019