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: rs1110061
rs1110061
NR5A1
7 0.807 0.200 9 124500523 missense variant C/A;G snv 4.3E-06; 0.10 0.020 1.000 2 2003 2006
dbSNP: rs771106787
rs771106787
CYP19A1 ; MIR4713HG
1 15 51237009 missense variant C/T snv 4.0E-06 0.010 1.000 1 2003 2003