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: rs139892516
rs139892516
2 0.925 0.120 14 81143649 missense variant C/G;T snv 4.0E-06; 2.8E-05 0.020 1.000 2 2009 2016