Source: BEFREE ×
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: rs2231142
rs2231142
54 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.820 1.000 2 2008 2019
dbSNP: rs2231137
rs2231137
12 0.752 0.400 4 88139962 missense variant C/T snv 0.11 7.4E-02 0.010 1.000 1 2014 2014