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