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: 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: 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: 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: 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: 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: rs199474744
rs199474744
NF1
1.000 0.120 17 31163367 missense variant T/A snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.700 1.000 20 1990 2014
dbSNP: rs199474752
rs199474752
NF1
1.000 0.120 17 31163376 missense variant G/A;C snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.800 1.000 20 1990 2014
dbSNP: rs199474756
rs199474756
NF1
1.000 0.120 17 31181482 missense variant T/C snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.800 1.000 24 1990 2016
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: rs199474773
rs199474773
NF1
1.000 0.120 17 31200546 missense variant A/G snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.700 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: 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: rs199474757
rs199474757
NF1
1.000 0.120 17 31214530 missense variant A/G snv 8.0E-06
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.700 1.000 20 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: 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
dbSNP: rs199474758
rs199474758
NF1
1.000 0.120 17 31221854 missense variant T/C snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.800 1.000 24 1990 2014
dbSNP: rs199474774
rs199474774
NF1
1.000 0.120 17 31223455 missense variant T/C;G snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.700 1.000 20 1990 2014
dbSNP: rs199474759
rs199474759
NF1
1.000 0.120 17 31223464 missense variant T/C snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.700 1.000 20 1990 2014
dbSNP: rs199474760
rs199474760
NF1
1.000 0.120 17 31223470 missense variant A/G snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.800 1.000 24 1990 2016
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: rs199474738
rs199474738
NF1
1.000 0.120 17 31225134 missense variant G/A;C snv 4.0E-06
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.800 1.000 24 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: rs199474761
rs199474761
NF1
1.000 0.120 17 31226517 missense variant T/C snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.800 1.000 20 1990 2016
dbSNP: rs199474762
rs199474762
NF1
1.000 0.120 17 31227254 missense variant T/C;G snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.800 1.000 24 1990 2014