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: rs368869806
rs368869806
97 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs397514698
rs397514698
52 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
dbSNP: rs1443187318
rs1443187318
14 0.882 0.080 7 44108060 stop gained -/A delins 1.3E-05 0.700 0