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: rs1445081098
rs1445081098
COMT ; MIR4761
17 0.724 0.480 22 19963746 missense variant G/C snv 4.0E-06 0.020 1.000 2 2014 2018
dbSNP: rs3802141
rs3802141
GPER1 ; C7orf50
1 1.000 0.040 7 1091720 5 prime UTR variant T/A;C snv 5.5E-06; 0.62 0.010 1.000 1 2019 2019
dbSNP: rs3918242
rs3918242
MMP9
54 0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14 0.010 < 0.001 1 2018 2018
dbSNP: rs4266553
rs4266553
GPER1 ; C7orf50
1 1.000 0.040 7 1093035 missense variant C/G;T snv 0.11; 6.7E-05 0.010 1.000 1 2019 2019