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: rs301799
rs301799
1 1.000 0.040 1 8429242 intron variant C/T snv 0.61 0.700 1.000 1 2019 2019
dbSNP: rs301807
rs301807
4 0.925 0.080 1 8424763 intron variant A/G;T snv 0.700 1.000 1 2018 2018