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: 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: rs199474790
rs199474790
NF1
1.000 0.120 17 31258488 missense variant A/C;G snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.800 1.000 24 1990 2014
dbSNP: rs199474763
rs199474763
NF1
1.000 0.120 17 31227539 missense variant A/C;T snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.700 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: rs199474740
rs199474740
NF1
1.000 0.120 17 31232092 missense variant A/G snv 1.2E-05 5.5E-05
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.700 1.000 24 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: rs199474764
rs199474764
NF1
1.000 0.120 17 31232852 missense variant A/G snv 4.0E-06
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.700 1.000 24 1990 2014
dbSNP: rs199474766
rs199474766
NF1
1.000 0.120 17 31265317 missense variant A/G snv 4.0E-06 1.4E-05
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.700 1.000 24 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: rs199474793
rs199474793
NF1
1.000 0.120 17 31357290 missense variant A/G snv 8.0E-06 7.0E-06
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: rs199474743
rs199474743
NF1
1.000 0.120 17 31260403 missense variant A/G snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.800 1.000 20 1990 2017
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: rs199474781
rs199474781
NF1
1.000 0.120 17 31258501 missense variant A/G snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.700 1.000 20 1990 2014
dbSNP: rs199474788
rs199474788
NF1
1.000 0.120 17 31258489 missense variant A/G snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.700 1.000 20 1990 2014
dbSNP: rs752039618
rs752039618
NF1
1.000 0.120 17 31233071 missense variant A/G snv 4.0E-06
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.700 0
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: 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: 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: rs199474746
rs199474746
NF1
1.000 0.120 17 31227536 missense variant C/A;G snv 4.0E-06
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.800 1.000 24 1977 2015
dbSNP: rs199474776
rs199474776
NF1
1.000 0.120 17 31337837 missense variant C/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: rs199474742
rs199474742
NF1
1.000 0.120 17 31235728 stop gained C/G;T snv 4.0E-06
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.800 1.000 24 1990 2015
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: 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