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: rs28936700
rs28936700
CYP1B1 ; CYP1B1-AS1
9 0.776 0.120 2 38075207 missense variant C/G;T snv 5.0E-06; 3.2E-04 0.030 1.000 3 2003 2011
dbSNP: rs1221648356
rs1221648356
CYP1B1
4 0.851 0.080 2 38071245 frameshift variant G/- delins 0.010 1.000 1 2009 2009
dbSNP: rs1407030489
rs1407030489
LTBP2
1 1.000 0.080 14 74552981 missense variant T/C snv 4.0E-06 0.010 1.000 1 2019 2019
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: rs367975354
rs367975354
TULP2
1 1.000 0.080 19 48884005 missense variant C/T snv 3.5E-04 4.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs72549381
rs72549381
CYP1B1
2 0.925 0.080 2 38071291 stop gained G/A snv 1.2E-05 2.8E-05 0.010 1.000 1 2001 2001
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
dbSNP: rs780002791
rs780002791
CYP1B1 ; CYP1B1-AS1
3 0.882 0.080 2 38075306 missense variant G/C snv 2.5E-05 4.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs79204362
rs79204362
CYP1B1
10 0.763 0.120 2 38071251 missense variant C/T snv 5.8E-03 1.7E-03 0.010 1.000 1 2019 2019
dbSNP: rs886059596
rs886059596
SLC4A4
1 1.000 0.080 4 71451214 missense variant A/G snv 4.0E-06 0.010 1.000 1 2019 2019