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: rs249756
rs249756
1 5 142533938 intron variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs4244029
rs4244029
2 5 142533276 non coding transcript exon variant C/T snv 0.21 0.700 1.000 1 2018 2018