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: rs1135402857
rs1135402857
NF1
1.000 0.120 17 31259038 stop gained C/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 8 1997 2016
dbSNP: rs199474738
rs199474738
NF1
1.000 0.120 17 31225134 missense variant G/A;C snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 8 2003 2014
dbSNP: rs768638173
rs768638173
NF1
0.882 0.200 17 31226474 stop gained C/T snv 4.0E-06 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 8 2003 2016
dbSNP: rs1057518904
rs1057518904
NF1
0.882 0.240 17 31221932 missense variant A/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 7 1994 2013
dbSNP: rs1555618656
rs1555618656
NF1
17 31259069 missense variant A/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 7 1996 2013
dbSNP: rs199474741
rs199474741
NF1
1.000 0.120 17 31233092 missense variant T/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 7 2004 2017
dbSNP: rs199474743
rs199474743
NF1
1.000 0.120 17 31260403 missense variant A/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 7 1997 2015
dbSNP: rs864622639
rs864622639
NF1
1.000 0.120 17 31343098 inframe deletion AACTTT/- delins 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 7 1994 2015
dbSNP: rs876657714
rs876657714
NF1
0.882 0.200 17 31327535 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 7 1994 2017
dbSNP: rs1131691092
rs1131691092
NF1
1.000 0.120 17 31233030 frameshift variant AA/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 6 2000 2011
dbSNP: rs267606606
rs267606606
NF1
0.882 0.240 17 31229954 inframe deletion AAT/- del 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 6 1993 2014
dbSNP: rs771529172
rs771529172
NF1
0.827 0.280 17 31327719 missense variant G/A;C;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 6 2003 2015
dbSNP: rs772295894
rs772295894
NF1
0.807 0.280 17 31338739 stop gained C/A;G snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 6 1995 2013
dbSNP: rs864622431
rs864622431
NF1
1.000 0.120 17 31248982 splice acceptor variant A/G snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 6 1997 2015
dbSNP: rs878853865
rs878853865
NF1
1.000 0.120 17 31206360 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 6 2000 2013
dbSNP: rs199474747
rs199474747
NF1
0.925 0.120 17 31229155 missense variant T/C;G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 5 2000 2014
dbSNP: rs199474752
rs199474752
NF1
1.000 0.120 17 31163376 missense variant G/A;C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 5 2002 2015
dbSNP: rs397514641
rs397514641
NF1
0.827 0.320 17 31169985 stop gained C/T snv 4.0E-06 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 5 2000 2015
dbSNP: rs786202782
rs786202782
NF1
0.925 0.120 17 31223476 frameshift variant ACTA/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 5 1998 2016
dbSNP: rs786203950
rs786203950
NF1
1.000 0.120 17 31200443 stop gained C/T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 5 1998 2013
dbSNP: rs876658853
rs876658853
NF1
1.000 0.120 17 31227526 missense variant T/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 5 2000 2014
dbSNP: rs878853922
rs878853922
NF1
1.000 0.120 17 31200420 splice acceptor variant A/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 5 1999 2015
dbSNP: rs886041347
rs886041347
NF1
0.790 0.320 17 31229061 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 5 2004 2016
dbSNP: rs1131691118
rs1131691118
NF1
17 31200595 missense variant G/A;C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 4 2000 2008
dbSNP: rs137854552
rs137854552
NF1
0.807 0.280 17 31334927 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 4 1990 2003