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: rs121908900
rs121908900
1 1.000 0.040 6 112069548 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs121908899
rs121908899
1 1.000 0.040 6 112064842 missense variant G/A;C snv 0.800 1.000 10 1999 2018