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: rs3749171
rs3749171
9 0.807 0.120 2 240630275 missense variant C/T snv 0.16; 9.4E-06 0.19 0.800 1.000 1 2012 2012