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: rs137854858
rs137854858
LTBP2
1 1.000 0.040 14 74551266 missense variant C/A;T snv 1.3E-05; 2.1E-05 0.700 0
dbSNP: rs137854860
rs137854860
LTBP2
1 1.000 0.040 14 74502911 missense variant C/G;T snv 4.0E-06; 1.3E-04 0.700 0
dbSNP: rs137854863
rs137854863
LTBP2
1 1.000 0.040 14 74505102 missense variant T/C snv 6.8E-05 7.0E-06 0.700 0
dbSNP: rs1553534421
rs1553534421
FASTKD1
2 0.925 0.040 2 169531449 missense variant A/T snv 0.700 0
dbSNP: rs1555954284
rs1555954284
DDX3X
24 0.752 0.360 X 41346607 missense variant C/T snv 0.700 0
dbSNP: rs1564354968
rs1564354968
OPTN
3 0.882 0.040 10 13109279 frameshift variant -/AGCT delins 0.700 0
dbSNP: rs878854408
rs878854408
MYOC ; MYOCOS
1 1.000 0.040 1 171636329 missense variant A/G snv 0.700 0
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 0.964 28 1997 2019
dbSNP: rs74315332
rs74315332
MYOC ; MYOCOS
3 0.882 0.040 1 171636000 missense variant G/T snv 0.030 1.000 3 1998 2011
dbSNP: rs137853277
rs137853277
MYOC ; MYOCOS
3 0.925 0.040 1 171636382 missense variant G/A snv 7.0E-04 3.1E-04 0.040 1.000 4 2000 2012
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 0.040 1.000 4 2000 2012
dbSNP: rs199752860
rs199752860
MYOC
2 0.925 0.040 1 171652578 missense variant C/G snv 6.9E-04 1.5E-04 0.020 1.000 2 2000 2002
dbSNP: rs2234927
rs2234927
MYOC ; MYOCOS
4 0.851 0.040 1 171638703 missense variant G/A;C snv 4.0E-06; 7.6E-04 0.020 1.000 2 2000 2001
dbSNP: rs74315334
rs74315334
MYOC ; MYOCOS
4 0.851 0.040 1 171636341 missense variant C/T snv 0.020 1.000 2 2000 2003
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: rs74315341
rs74315341
MYOC ; MYOCOS
4 0.851 0.040 1 171636686 missense variant C/T snv 0.010 1.000 1 2000 2000
dbSNP: rs2234926
rs2234926
MYOC
3 0.882 0.040 1 171652385 missense variant C/T snv 0.15 0.11 0.030 0.667 3 2001 2008
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: rs763068244
rs763068244
MYOC ; MYOCOS
1 1.000 0.040 1 171635999 missense variant G/A snv 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs28939688
rs28939688
OPTN
7 0.807 0.040 10 13109270 missense variant G/A snv 0.760 1.000 16 2002 2017
dbSNP: rs75654767
rs75654767
OPTN
4 0.851 0.040 10 13136766 missense variant G/A snv 3.1E-03 1.0E-03 0.740 0.867 15 2002 2014
dbSNP: rs1346865805
rs1346865805
OPTN
1 1.000 0.040 10 13110416 missense variant G/C snv 1.2E-05 0.700 1.000 11 2002 2014
dbSNP: rs200710076
rs200710076
OPTN
2 0.925 0.040 10 13109198 missense variant C/A;G;T snv 8.0E-06; 2.0E-05; 2.4E-05 0.700 1.000 11 2002 2014
dbSNP: rs373425395
rs373425395
OPTN
1 1.000 0.040 10 13132122 missense variant A/G snv 1.6E-05 7.7E-05 0.700 1.000 11 2002 2014
dbSNP: rs74315330
rs74315330
MYOC ; MYOCOS
9 0.776 0.080 1 171636331 missense variant G/A snv 0.050 1.000 5 2002 2011