Source: ALL

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: rs121917757
rs121917757
HRAS ; LRRC56
0.851 0.200 11 534259 stop gained G/A;T snv 1.2E-05
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.820 1.000 2 2007 2015
dbSNP: rs121917757
rs121917757
HRAS ; LRRC56
0.851 0.200 11 534259 stop gained G/A;T snv 1.2E-05
CUI: C1968782
Disease: MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES
MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES 		0.700 0
dbSNP: rs121917757
rs121917757
HRAS ; LRRC56
0.851 0.200 11 534259 stop gained G/A;T snv 1.2E-05
CUI: C1864903
Disease: Hyperinsulinemic hypoglycemia
Hyperinsulinemic hypoglycemia 		0.010 1.000 1 2016 2016
dbSNP: rs121917757
rs121917757
HRAS ; LRRC56
0.851 0.200 11 534259 stop gained G/A;T snv 1.2E-05
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		0.010 1.000 1 2016 2016