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: rs137852981
rs137852981
30 0.752 0.480 2 144399104 stop gained G/A snv 0.700 0
dbSNP: rs1443187318
rs1443187318
14 0.882 0.080 7 44108060 stop gained -/A delins 1.3E-05 0.700 0