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: rs2904551
rs2904551
PRODH
8 0.776 0.160 22 18918421 missense variant A/G snv 5.2E-03 2.8E-03 0.020 1.000 2 2002 2005
dbSNP: rs137852937
rs137852937
ALDH4A1
2 0.925 0.080 1 18877498 missense variant G/A;C snv 9.6E-05; 4.2E-06 0.010 1.000 1 2012 2012
dbSNP: rs3970559
rs3970559
PRODH
4 0.851 0.120 22 18918386 missense variant G/A snv 1.1E-02 0.010 1.000 1 2005 2005