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: rs121908675
rs121908675
LARGE1
1 1.000 0.240 22 33304434 stop gained C/A;T snv 8.0E-06 0.800 1.000 2 2003 2010