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: rs1442820036
rs1442820036
1 1.000 0.080 21 33246788 missense variant G/A snv 4.0E-06 0.020 1.000 2 2009 2013
dbSNP: rs12233338
rs12233338
1 1.000 0.080 21 33228611 upstream gene variant T/C snv 0.21 0.010 1.000 1 2018 2018