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: rs869312731
rs869312731
FERMT1
1 1.000 0.160 20 6079448 stop gained C/T snv 0.700 1.000 1 2004 2004