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: rs1157200929
rs1157200929
2 0.925 0.120 19 22180315 stop gained T/A snv 0.010 1.000 1 2019 2019