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: rs104894364
rs104894364
0.925 0.160 12 25227351 missense variant G/A snv
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3
0.800 1.000 7 2006 2011
dbSNP: rs104894364
rs104894364
0.925 0.160 12 25227351 missense variant G/A snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.710 1.000 8 2006 2013