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: rs1555703272
rs1555703272
4 0.925 0.080 17 81715568 stop gained A/T snv 0.700 1.000 1 2018 2018