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: rs863225264
rs863225264
6 0.827 0.240 1 11130747 missense variant C/T snv 0.020 1.000 2 2015 2016