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: rs753000469
rs753000469
4 0.851 0.200 1 212859113 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017