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: rs63750042
rs63750042
6 0.925 0.240 2 47408415 stop gained C/G;T snv 4.0E-06 0.710 1.000 1 2009 2009