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: rs142727972
rs142727972
3 0.925 0.080 9 137743479 missense variant C/G;T snv 4.0E-06; 7.6E-05 0.010 1.000 1 2018 2018
dbSNP: rs373269573
rs373269573
2 0.925 0.080 9 137711015 missense variant G/A snv 1.6E-04 9.1E-05 0.010 1.000 1 2002 2002
dbSNP: rs764437500
rs764437500
2 0.925 0.080 9 137716697 missense variant G/A snv 4.0E-06 0.010 1.000 1 2002 2002