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: rs2072183
rs2072183
3 0.925 0.040 7 44539581 synonymous variant G/A;C snv 4.0E-06; 0.25 0.800 1.000 2 2010 2017
dbSNP: rs17725246
rs17725246
3 7 44542387 upstream gene variant T/A;C snv 0.800 1.000 1 2012 2018