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: rs727504382
rs727504382
MAP2K2
0.925 0.200 19 4101105 missense variant C/T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 0
dbSNP: rs727504382
rs727504382
MAP2K2
0.925 0.200 19 4101105 missense variant C/T snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.700 0