Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137854550
rs137854550
NF1
10 0.790 0.360 17 31258500 missense variant A/C;G snv 0.800 1.000 3 2003 2009
dbSNP: rs199474789
rs199474789
NF1
2 0.925 0.240 17 31258401 missense variant C/G;T snv 0.800 1.000 3 2003 2009
dbSNP: rs199474753
rs199474753
NF1
1 1.000 0.240 17 31169992 missense variant T/G snv 4.0E-06 0.700 1.000 3 2003 2009
dbSNP: rs199474754
rs199474754
NF1
2 0.925 0.240 17 31259051 missense variant A/C;G;T snv 0.700 1.000 3 2003 2009
dbSNP: rs199474755
rs199474755
NF1
1 1.000 0.240 17 31259056 missense variant G/A;C;T snv 1.7E-05 0.700 1.000 3 2003 2009
dbSNP: rs786203448
rs786203448
NF1
2 1.000 0.240 17 31181460 stop gained C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs1060500376
rs1060500376
NF1
3 0.925 0.240 17 31337881 splice donor variant G/A;C;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs1064794277
rs1064794277
NF1
5 0.827 0.280 17 31232832 missense variant G/A;C;T snv 0.700 0
dbSNP: rs1131691073
rs1131691073
NF1
6 0.827 0.280 17 31340553 stop gained C/T snv 0.700 0
dbSNP: rs1131691075
rs1131691075
NF1
6 0.827 0.280 17 31235773 splice donor variant G/A;T snv 0.700 0
dbSNP: rs137854552
rs137854552
NF1
7 0.807 0.280 17 31334927 stop gained C/T snv 0.700 0
dbSNP: rs137854556
rs137854556
NF1
5 0.827 0.280 17 31235729 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs1555534433
rs1555534433
NF1
5 0.827 0.280 17 31335032 splice donor variant G/A snv 0.700 0
dbSNP: rs1567847905
rs1567847905
NF1
5 0.827 0.280 17 31227232 stop gained C/T snv 0.700 0
dbSNP: rs1567862991
rs1567862991
NF1
5 0.827 0.280 17 31260481 stop gained C/T snv 0.700 0
dbSNP: rs267606606
rs267606606
NF1
4 0.882 0.240 17 31229954 inframe deletion AAT/- del 4.0E-06 0.700 0
dbSNP: rs267606607
rs267606607
NF1
2 0.925 0.240 17 31259069 inframe deletion GAA/- delins 0.700 0
dbSNP: rs771529172
rs771529172
NF1
6 0.827 0.280 17 31327719 missense variant G/A;C;T snv 0.700 0
dbSNP: rs772295894
rs772295894
NF1
7 0.807 0.280 17 31338739 stop gained C/A;G snv 4.0E-06 0.700 0
dbSNP: rs778405030
rs778405030
NF1
6 0.827 0.280 17 31206297 stop gained C/T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs786201367
rs786201367
NF1
6 0.827 0.280 17 31357308 stop gained C/T snv 0.700 0
dbSNP: rs786202112
rs786202112
NF1
7 0.827 0.280 17 31327839 missense variant G/A snv 0.700 0
dbSNP: rs786203896
rs786203896
NF1
6 0.827 0.280 17 31330468 stop gained G/T snv 0.700 0
dbSNP: rs876660696
rs876660696
NF1
6 0.827 0.280 17 31335016 stop gained G/A snv 0.700 0
dbSNP: rs886041347
rs886041347
NF1
13 0.790 0.320 17 31229061 stop gained C/T snv 0.700 0