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: rs794727794
rs794727794
SGCE ; CASD1
1 1.000 0.040 7 94603343 frameshift variant AT/- del 7.0E-06 0.700 1.000 3 2007 2011