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: rs1390860312
rs1390860312
1 1.000 0.080 3 63982229 missense variant G/A snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs6798742
rs6798742
1 1.000 0.080 3 63918083 intron variant A/G snv 0.42 0.010 1.000 1 2017 2017