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: rs200169735
rs200169735
2 0.925 0.080 1 226895498 missense variant C/G;T snv 4.0E-06; 2.8E-05 0.010 1.000 1 2017 2017