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: rs72549387
rs72549387
CYP1B1 ; CYP1B1-AS1
7 0.790 0.120 2 38075218 stop gained C/G;T snv 1.7E-04 0.800 1.000 23 1998 2012
dbSNP: rs104893622
rs104893622
CYP1B1
2 0.925 0.120 2 38071234 missense variant C/T snv 0.800 1.000 20 1998 2008
dbSNP: rs104893628
rs104893628
CYP1B1 ; CYP1B1-AS1
1 1.000 0.040 2 38074695 missense variant C/G snv 7.0E-06 0.800 1.000 20 1998 2008
dbSNP: rs104893629
rs104893629
CYP1B1
2 0.925 0.040 2 38071087 missense variant T/A snv 1.2E-05 7.0E-06 0.800 1.000 20 1998 2008
dbSNP: rs28936700
rs28936700
CYP1B1 ; CYP1B1-AS1
9 0.776 0.120 2 38075207 missense variant C/G;T snv 5.0E-06; 3.2E-04 0.800 1.000 20 1998 2008
dbSNP: rs28936701
rs28936701
CYP1B1
1 1.000 0.040 2 38070949 missense variant G/A snv 4.8E-05 3.5E-05 0.800 1.000 20 1998 2008
dbSNP: rs55989760
rs55989760
CYP1B1
3 0.882 0.120 2 38071195 missense variant C/G;T snv 2.9E-04 0.800 1.000 20 1998 2008
dbSNP: rs148542782
rs148542782
CYP1B1
1 1.000 0.040 2 38071186 missense variant G/A;T snv 2.4E-05; 1.6E-05 0.800 1.000 5 2004 2011
dbSNP: rs79204362
rs79204362
CYP1B1
10 0.763 0.120 2 38071251 missense variant C/T snv 5.8E-03 1.7E-03 0.800 0
dbSNP: rs1426636145
rs1426636145
CYP1B1 ; CYP1B1-AS1
1 1.000 0.040 2 38074781 missense variant T/C snv 2.4E-05 7.0E-06 0.700 1.000 20 1998 2008
dbSNP: rs529769268
rs529769268
CYP1B1 ; CYP1B1-AS1
1 1.000 0.040 2 38074811 missense variant G/A;C snv 1.2E-04; 5.7E-06 0.700 1.000 20 1998 2008
dbSNP: rs56010818
rs56010818
CYP1B1
2 0.925 0.120 2 38071185 missense variant C/T snv 9.2E-05 7.7E-05 0.700 1.000 20 1998 2008
dbSNP: rs56175199
rs56175199
CYP1B1
1 1.000 0.040 2 38071044 missense variant G/A;T snv 8.0E-06; 2.0E-05 0.700 1.000 20 1998 2008
dbSNP: rs72549372
rs72549372
CYP1B1
1 1.000 0.040 2 38070858 missense variant T/C snv 0.700 1.000 20 1998 2008
dbSNP: rs72549376
rs72549376
CYP1B1
1 1.000 0.040 2 38071023 missense variant C/G;T snv 1.2E-05 0.700 1.000 20 1998 2008
dbSNP: rs72549378
rs72549378
CYP1B1
1 1.000 0.040 2 38071158 missense variant A/C snv 0.700 1.000 20 1998 2008
dbSNP: rs72549379
rs72549379
CYP1B1
2 0.925 0.120 2 38071264 missense variant C/T snv 1.6E-05 0.700 1.000 20 1998 2008
dbSNP: rs72549382
rs72549382
CYP1B1 ; CYP1B1-AS1
1 1.000 0.040 2 38074431 missense variant C/A;G;T snv 3.1E-04; 4.0E-06 0.700 1.000 20 1998 2008
dbSNP: rs72549384
rs72549384
CYP1B1 ; CYP1B1-AS1
1 1.000 0.040 2 38074745 missense variant C/A;G snv 1.5E-04; 4.9E-05 0.700 1.000 20 1998 2008
dbSNP: rs764338357
rs764338357
CYP1B1 ; CYP1B1-AS1
1 1.000 0.040 2 38075046 missense variant C/G;T snv 1.0E-05; 5.0E-06 0.700 1.000 20 1998 2008
dbSNP: rs868208502
rs868208502
CYP1B1
1 1.000 0.040 2 38070957 missense variant C/T snv 0.700 1.000 20 1998 2008
dbSNP: rs777678299
rs777678299
CYP1B1 ; CYP1B1-AS1
1 1.000 0.040 2 38074404 missense variant C/T snv 1.2E-05 0.700 1.000 2 2011 2016
dbSNP: rs1064792896
rs1064792896
CYP1B1
2 0.925 0.040 2 38071279 frameshift variant CTGCCTGCACTCG/- del 0.700 1.000 1 1997 1997
dbSNP: rs74315339
rs74315339
MYOC
6 0.807 0.120 1 171652468 missense variant C/A snv 9.8E-04 1.3E-04 0.700 1.000 1 2005 2005
dbSNP: rs1558603396
rs1558603396
CYP1B1 ; CYP1B1-AS1
1 1.000 0.040 2 38074606 missense variant G/T snv 0.700 0