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: rs2283847
rs2283847
MN1
7 22 27785411 intron variant C/A;G;T snv 0.700 1.000 1 2019 2019