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: 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: 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: 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: 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: 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: rs74315334
rs74315334
MYOC ; MYOCOS
4 0.851 0.040 1 171636341 missense variant C/T snv 0.020 1.000 2 2000 2003
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: 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: 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