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: rs121909218
rs121909218
25 0.672 0.360 10 87933145 missense variant G/A snv 0.700 0
dbSNP: rs1554893835
rs1554893835
8 0.827 0.240 10 87894110 splice donor variant G/C;T snv 0.700 0