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: rs7654947
rs7654947
1 1.000 0.040 4 144704578 intron variant C/T snv 0.57 0.010 1.000 1 2017 2017
dbSNP: rs7689420
rs7689420
7 0.851 0.080 4 144647200 non coding transcript exon variant T/C snv 0.79 0.010 1.000 1 2019 2019