Source: INFERRED ×
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: rs864309661
rs864309661
4 1.000 0.080 X 49077715 inframe deletion CCA/- delins 0.700 1.000 3 2012 2013
dbSNP: rs387907329
rs387907329
10 0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06 0.700 0