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: rs756633599
rs756633599
SIM1
2 0.925 0.080 6 100447299 missense variant G/A snv 1.6E-05 0.010 < 0.001 1 2013 2013