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: rs1553518509
rs1553518509
2 1.000 0.040 2 148468916 stop gained C/T snv 0.700 1.000 1 2019 2019