Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121917759
rs121917759
HRAS ; LRRC56
0.790 0.480 11 533466 missense variant G/A snv
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.800 1.000 8 2005 2014