Gene: CYP19A1 ×
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: rs2414096
rs2414096
CYP19A1 ; MIR4713HG
3 0.882 0.240 15 51237582 intron variant G/A snv 0.40 0.020 1.000 2 2009 2018
dbSNP: rs700519
rs700519
CYP19A1 ; MIR4713HG
11 0.752 0.280 15 51215771 missense variant G/A snv 7.6E-02 8.0E-02 0.020 1.000 2 2011 2017
dbSNP: rs1413421847
rs1413421847
CYP19A1 ; MIR4713HG
3 0.882 0.160 15 51242801 missense variant C/T snv 2.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs2470152
rs2470152
CYP19A1
6 0.827 0.240 15 51302775 intron variant G/A snv 0.50 0.010 < 0.001 1 2012 2012
dbSNP: rs700518
rs700518
CYP19A1 ; MIR4713HG
13 0.732 0.320 15 51236915 synonymous variant T/C snv 0.43 0.40 0.010 1.000 1 2017 2017
dbSNP: rs727479
rs727479
CYP19A1 ; MIR4713 ; MIR4713HG
10 0.790 0.240 15 51242350 intron variant C/A;T snv 0.010 1.000 1 2017 2017