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: rs2981575
rs2981575
4 0.882 0.120 10 121586602 intron variant G/A snv 0.54 0.700 1.000 1 2018 2018
dbSNP: rs1047100
rs1047100
1 1.000 0.040 10 121538644 synonymous variant T/A;C snv 1.2E-05; 0.78 0.010 1.000 1 2013 2013