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: rs2239547
rs2239547
6 0.882 0.040 3 52821213 intron variant T/C snv 0.27 0.010 1.000 1 2018 2018
dbSNP: rs3821831
rs3821831
2 1.000 0.040 3 52819385 splice region variant C/T snv 0.29 0.29 0.010 1.000 1 2018 2018