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: rs11584340
rs11584340
5 0.827 0.200 1 152313454 missense variant G/A snv 0.27 0.19 0.010 1.000 1 2017 2017