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: rs199474786
rs199474786
NF1
1.000 0.120 17 31229308 missense variant T/C snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.800 1.000 24 1990 2014
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: rs199474792
rs199474792
NF1
1.000 0.120 17 31334883 missense variant T/C 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: 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: 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: 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: rs199474748
rs199474748
NF1
1.000 0.120 17 31229158 missense variant G/A snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.800 1.000 20 1990 2015
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: 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: rs199474791
rs199474791
NF1
1.000 0.120 17 31334879 missense variant T/C snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.800 1.000 20 1990 2014
dbSNP: rs267606598
rs267606598
NF1
1.000 0.120 17 31337514 missense variant T/A;C snv 4.0E-06
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.800 1.000 4 2004 2014
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: 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: 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: 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: rs199474765
rs199474765
NF1
1.000 0.120 17 31235651 missense variant G/A;C;T 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: rs199474777
rs199474777
NF1
1.000 0.120 17 31227260 missense variant G/A;T snv 8.0E-05; 4.0E-06
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.700 1.000 24 1990 2014
dbSNP: rs199474780
rs199474780
NF1
1.000 0.120 17 31233083 missense variant T/C;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: 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: 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: 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