Source: CLINVAR

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: rs587777239
rs587777239
HRAS ; LRRC56
1.000 0.080 11 533848 inframe insertion -/GTCCCGCATGGCGCTGTACTC delins
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.700 0