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: rs1060500316
rs1060500316
NF1
1.000 0.120 17 31265335 missense variant C/T snv 4.0E-06
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.700 1.000 4 2004 2014
dbSNP: rs137854550
rs137854550
NF1
0.790 0.360 17 31258500 missense variant A/C;G snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.800 1.000 24 1990 2016
dbSNP: rs137854551
rs137854551
NF1
1.000 0.120 17 31337430 missense variant C/A snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.800 1.000 24 1990 2014
dbSNP: rs137854553
rs137854553
NF1
1.000 0.120 17 31230373 missense variant T/C;G snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.800 1.000 24 1990 2014
dbSNP: rs137854554
rs137854554
NF1
1.000 0.120 17 31258406 missense variant A/T snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.800 1.000 24 1990 2016
dbSNP: rs137854556
rs137854556
NF1
0.827 0.280 17 31235729 missense variant G/A;C snv 4.0E-06
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.800 1.000 24 1990 2016
dbSNP: rs137854557
rs137854557
NF1
1.000 0.120 17 31214524 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.800 1.000 24 1990 2014
dbSNP: rs137854558
rs137854558
NF1
1.000 0.120 17 31214581 missense variant T/C snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.800 1.000 24 1990 2014
dbSNP: rs137854563
rs137854563
NF1
0.925 0.120 17 31201044 missense variant T/C;G snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.800 1.000 24 1990 2014
dbSNP: rs137854564
rs137854564
NF1
1.000 0.120 17 31235630 missense variant T/C snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.800 1.000 20 1990 2014
dbSNP: rs137854566
rs137854566
NF1
1.000 0.120 17 31229146 missense variant T/C;G snv 4.0E-06
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.800 1.000 24 1990 2018
dbSNP: rs142712751
rs142712751
NF1
1.000 0.120 17 31223532 missense variant T/C;G snv 1.4E-03
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.700 1.000 20 1990 2014
dbSNP: rs145891889
rs145891889
NF1
1.000 0.120 17 31225243 missense variant C/T snv 6.0E-04 2.2E-03
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.700 0
dbSNP: rs149055633
rs149055633
NF1
1.000 0.120 17 31352319 missense variant C/T snv 5.6E-05 6.3E-05
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.700 1.000 24 1990 2014
dbSNP: rs199474725
rs199474725
NF1
1.000 0.120 17 31156014 missense variant A/G snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.700 1.000 20 1990 2014
dbSNP: rs199474728
rs199474728
NF1
1.000 0.120 17 31159083 missense variant G/A snv 7.0E-06
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.800 1.000 20 1990 2014
dbSNP: rs199474729
rs199474729
NF1
1.000 0.120 17 31159050 missense variant C/T snv 4.0E-06
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.800 1.000 24 1990 2014
dbSNP: rs199474730
rs199474730
NF1
1.000 0.120 17 31227547 missense variant T/C snv 7.0E-06
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.800 1.000 20 1990 2014
dbSNP: rs199474731
rs199474731
NF1
1.000 0.120 17 31163247 missense variant T/G snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.700 1.000 20 1990 2014
dbSNP: rs199474732
rs199474732
NF1
1.000 0.120 17 31233115 missense variant C/G;T snv 4.0E-06
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.800 1.000 24 1990 2016
dbSNP: rs199474733
rs199474733
NF1
1.000 0.120 17 31259036 missense variant T/C snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.700 1.000 20 1990 2014
dbSNP: rs199474734
rs199474734
NF1
1.000 0.120 17 31163331 missense variant T/A;C snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.700 1.000 20 1990 2014
dbSNP: rs199474735
rs199474735
NF1
1.000 0.120 17 31200503 missense variant T/C;G snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.700 1.000 20 1990 2014
dbSNP: rs199474736
rs199474736
NF1
1.000 0.120 17 31200543 missense variant A/T snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.700 1.000 20 1990 2014
dbSNP: rs199474737
rs199474737
NF1
1.000 0.120 17 31219072 missense variant T/C;G snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.800 1.000 24 1990 2014