Source: CLINVAR

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: rs199474750
rs199474750
NF1
1.000 0.120 17 31258502 missense variant G/A;C;T snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.810 1.000 1 1990 2018
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 16 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 12 1990 2015
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 11 1990 2016
dbSNP: rs199474747
rs199474747
NF1
0.925 0.120 17 31229155 missense variant T/C;G snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.800 1.000 11 1990 2018
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 7 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 7 1990 2016
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 6 1990 2016
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 6 1990 2017
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 6 1977 2015
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 5 1990 2018
dbSNP: rs199474745
rs199474745
NF1
1.000 0.120 17 31227527 missense variant G/C snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.800 1.000 5 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 4 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 4 1990 2014
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 4 1990 2015
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 4 1990 2016
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 3 1990 2016
dbSNP: rs199474785
rs199474785
NF1
1.000 0.120 17 31229145 missense variant C/T snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.800 1.000 3 1990 2016
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 2 1990 2016
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 2 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 2 1990 2014
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 2 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 1 1990 2014
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 1 1990 2014
dbSNP: rs137854550
rs137854550
NF1
0.790 0.360 17 31258500 missense variant A/C;G snv
CUI: C2931482
Disease: Neurofibromatosis-Noonan syndrome
Neurofibromatosis-Noonan syndrome
0.800 1.000 0 2003 2009