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: rs2254287
rs2254287
3 1.000 0.040 6 33176171 intron variant C/A;G;T snv 0.800 1.000 1 2008 2008