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: rs376048533
rs376048533
4 0.851 0.240 2 162272377 missense variant C/T snv 2.8E-05 0.020 1.000 2 2017 2017