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: rs869320740
rs869320740
5 0.851 0.200 2 178546102 missense variant A/G snv 4.1E-06 0.020 1.000 2 2013 2014