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: rs1423560438
rs1423560438
3 0.882 0.080 6 137875748 stop gained C/T snv 0.010 1.000 1 2019 2019