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: rs747685252
rs747685252
1 9 116698433 frameshift variant G/- del 2.4E-05 7.0E-06 0.700 0
dbSNP: rs111033570
rs111033570
4 0.925 0.160 9 116699201 missense variant G/A snv 8.0E-06 0.010 1.000 1 2008 2008