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: 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: rs753847648
rs753847648
CYP1B1 ; CYP1B1-AS1
1 1.000 0.040 2 38074958 missense variant T/C snv 4.3E-05 7.0E-06 0.700 0
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: 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: rs780002791
rs780002791
CYP1B1 ; CYP1B1-AS1
3 0.882 0.080 2 38075306 missense variant G/C snv 2.5E-05 4.2E-05 0.700 0
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: rs868208502
rs868208502
CYP1B1
1 1.000 0.040 2 38070957 missense variant C/T snv 0.700 1.000 20 1998 2008
dbSNP: rs9282671
rs9282671
CYP1B1 ; CYP1B1-AS1
4 0.851 0.120 2 38075148 missense variant A/T snv 3.6E-03 3.6E-03 0.700 0
dbSNP: rs957253424
rs957253424
CYP1B1
1 1.000 0.040 2 38071129 missense variant C/A snv 4.0E-06 7.0E-06 0.700 0