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: rs797045139
rs797045139
NF1
0.882 0.120 17 31327718 missense variant C/A;G;T snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.710 1.000 1 2003 2015
dbSNP: rs797045139
rs797045139
NF1
0.882 0.120 17 31327718 missense variant C/A;G;T snv
CUI: C0027830
Disease: neurofibroma
neurofibroma 		0.010 1.000 1 2015 2015
dbSNP: rs797045139
rs797045139
NF1
0.882 0.120 17 31327718 missense variant C/A;G;T snv
CUI: C0162678
Disease: Neurofibromatoses
Neurofibromatoses 		0.010 1.000 1 2015 2015
dbSNP: rs797045139
rs797045139
NF1
0.882 0.120 17 31327718 missense variant C/A;G;T snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2015 2015