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: rs1221648356
rs1221648356
CYP1B1
4 0.851 0.080 2 38071245 frameshift variant G/- delins 0.010 1.000 1 2009 2009
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