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: rs1567564042
rs1567564042
6 0.827 0.120 17 10654924 stop gained A/C snv 0.700 0
dbSNP: rs557849165
rs557849165
9 0.776 0.160 17 10656089 splice donor variant C/T snv 1.2E-03 0.700 0