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: rs1232197674
rs1232197674
5 0.827 0.240 6 50838070 missense variant C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2019 2019