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: rs398123812
rs398123812
SGCE ; CASD1
1 1.000 0.040 7 94603406 stop gained G/A snv 0.700 1.000 1 2008 2008