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: rs1443187318
rs1443187318
14 0.882 0.080 7 44108060 stop gained -/A delins 1.3E-05 0.010 1.000 1 2019 2019