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: rs55989760
rs55989760
CYP1B1
3 0.882 0.120 2 38071195 missense variant C/G;T snv 2.9E-04 0.700 1.000 15 1998 2016
dbSNP: rs72549387
rs72549387
CYP1B1 ; CYP1B1-AS1
7 0.790 0.120 2 38075218 stop gained C/G;T snv 1.7E-04 0.700 1.000 8 2001 2016
dbSNP: rs587778873
rs587778873
CYP1B1
2 0.925 0.040 2 38071145 frameshift variant TGGCATGAGG/-;TGGCATGAGGTGGCATGAGG delins 0.700 1.000 7 1998 2017
dbSNP: rs771076928
rs771076928
CYP1B1 ; CYP1B1-AS1
1 1.000 0.040 2 38074854 frameshift variant C/- delins 4.9E-05 0.700 1.000 6 2002 2016
dbSNP: rs587778875
rs587778875
CYP1B1 ; CYP1B1-AS1
1 1.000 0.040 2 38074520 frameshift variant -/G delins 2.6E-05 3.5E-05 0.700 1.000 4 1997 2015
dbSNP: rs72549380
rs72549380
CYP1B1
1 1.000 0.040 2 38071278 frameshift variant TCTGCCTGCACTC/- del 2.2E-04 2.3E-04 0.700 1.000 2 1997 2017
dbSNP: rs766425037
rs766425037
CYP1B1 ; CYP1B1-AS1
1 1.000 0.040 2 38074559 frameshift variant A/- delins 2.9E-05 1.4E-05 0.700 1.000 2 2007 2009
dbSNP: rs137854895
rs137854895
LTBP2
2 0.925 0.040 14 74500974 frameshift variant G/- del 0.700 0
dbSNP: rs749073455
rs749073455
CYP1B1
1 1.000 0.040 2 38071009 frameshift variant C/- delins 4.4E-05 2.8E-05 0.700 0
dbSNP: rs893198212
rs893198212
CYP1B1
1 1.000 0.040 2 38071052 stop gained C/A;T snv 0.700 0
dbSNP: rs1221648356
rs1221648356
CYP1B1
4 0.851 0.080 2 38071245 frameshift variant G/- delins 0.010 1.000 1 2009 2009
dbSNP: rs1410349925
rs1410349925
PXDN
2 0.925 0.080 2 1648284 missense variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016
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 0.010 1.000 1 2011 2011
dbSNP: rs74315330
rs74315330
MYOC ; MYOCOS
9 0.776 0.080 1 171636331 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs745378110
rs745378110
CYP1B1
4 0.851 0.080 2 38071247 frameshift variant C/- del 0.010 1.000 1 2009 2009