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: rs727503094
rs727503094
HRAS ; LRRC56
0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.750 1.000 2 2006 2019