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: 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: 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: 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: 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: rs59472972
rs59472972
CYP1B1 ; CYP1B1-AS1
1 1.000 0.040 2 38074797 missense variant C/T snv 2.8E-04 9.1E-05 0.700 0
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: 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: 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: rs57865060
rs57865060
CYP1B1 ; CYP1B1-AS1
6 0.827 0.160 2 38074704 missense variant C/T snv 1.1E-02 5.7E-03 0.700 0