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: rs786202112
rs786202112
NF1
0.827 0.280 17 31327839 missense variant G/A snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.710 1.000 1 2000 2014
dbSNP: rs786202112
rs786202112
NF1
0.827 0.280 17 31327839 missense variant G/A snv
CUI: C0162678
Disease: Neurofibromatoses
Neurofibromatoses 		0.010 1.000 1 2006 2006