Source: BEFREE

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: rs121918459
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.720 0.923 2 2001 2013
dbSNP: rs121918459
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.010 < 0.001 1 2006 2006