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: rs2384034
rs2384034
4 12 112766880 intron variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs7315593
rs7315593
1 12 112840165 intron variant G/A;T snv 0.44 0.700 1.000 1 2018 2018