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: rs886041347
rs886041347
NF1
0.790 0.320 17 31229061 stop gained C/T snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.710 1.000 1 1997 2015
dbSNP: rs886041347
rs886041347
NF1
0.790 0.320 17 31229061 stop gained C/T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.020 1.000 2 1998 2003