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: rs150401343
rs150401343
2 0.925 0.080 1 111780713 missense variant G/A snv 1.3E-04 7.0E-05 0.800 1.000 2 2011 2012
dbSNP: rs786205867
rs786205867
3 0.882 0.080 1 111787039 missense variant C/T snv 0.800 0