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: rs104894365
rs104894365
0.827 0.320 12 25245345 missense variant C/T snv
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3
0.800 1.000 11 2006 2014