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: rs121912562
rs121912562
2 0.925 0.160 4 148435252 stop gained G/A;C snv 4.0E-06 0.700 1.000 1 2019 2019