Source: ALL
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: rs387907189
rs387907189
SRP72
1 1.000 4 56476680 missense variant G/A snv 3.2E-05 4.2E-05 0.800 1.000 1 2012 2012
dbSNP: rs587776907
rs587776907
SRP72
1 1.000 4 56484838 frameshift variant CA/- delins 0.700 0