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: rs55645543
rs55645543
1 1.000 0.040 4 121686023 intron variant T/C;G snv 0.800 1.000 1 2011 2011