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: rs1318353774
rs1318353774
2 1.000 19 13298827 stop gained G/A;C snv 0.700 1.000 46 1988 2017
dbSNP: rs147001633
rs147001633
15 0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04 0.700 1.000 36 1989 2018
dbSNP: rs137854562
rs137854562
NF1
4 0.925 0.120 17 31235623 stop gained C/T snv 0.700 1.000 34 1967 2017
dbSNP: rs1554698878
rs1554698878
4 0.925 9 83971976 stop gained G/A snv 0.700 1.000 30 1996 2018
dbSNP: rs797044870
rs797044870
3 0.925 1 22086456 missense variant A/G snv 0.700 1.000 30 1993 2015
dbSNP: rs113001196
rs113001196
5 0.882 0.160 15 48432947 stop gained G/A snv 0.700 1.000 29 1986 2016
dbSNP: rs387906623
rs387906623
4 0.882 0.120 15 48460258 missense variant C/T snv 0.700 1.000 29 1986 2016
dbSNP: rs1555859593
rs1555859593
3 1.000 19 41970483 missense variant G/T snv 0.700 1.000 27 1988 2017
dbSNP: rs121918490
rs121918490
6 0.851 0.080 10 121517342 missense variant G/C snv 0.700 1.000 26 1985 2017
dbSNP: rs797044885
rs797044885
4 0.925 1 244055156 missense variant A/G snv 0.700 1.000 26 1997 2017
dbSNP: rs797044953
rs797044953
3 1.000 3 9447684 splice acceptor variant A/T snv 0.700 1.000 26 1995 2018
dbSNP: rs1555188379
rs1555188379
1 12 49032761 stop gained G/A snv 0.700 1.000 25 1988 2017
dbSNP: rs574622908
rs574622908
2 1.000 12 49046358 stop gained G/C;T snv 4.0E-06 0.700 1.000 25 1988 2017
dbSNP: rs587783685
rs587783685
5 0.925 0.120 12 49032113 stop gained G/A snv 0.700 1.000 25 1988 2017
dbSNP: rs794727688
rs794727688
2 1.000 12 49026431 missense variant G/A snv 0.700 1.000 25 1988 2017
dbSNP: rs1555205335
rs1555205335
1 12 109788404 missense variant A/C snv 0.700 1.000 24 1976 2017
dbSNP: rs267607144
rs267607144
17 0.716 0.360 12 109800665 missense variant C/T snv 0.700 1.000 24 1976 2017
dbSNP: rs1553631770
rs1553631770
4 1.000 3 41233398 missense variant A/T snv 0.700 1.000 22 1991 2017
dbSNP: rs781978013
rs781978013
3 1.000 11 118472681 stop gained G/A;T snv 4.0E-06 0.700 1.000 22 1989 2017
dbSNP: rs797044875
rs797044875
3 1.000 3 41235763 missense variant G/A snv 0.700 1.000 22 1991 2017
dbSNP: rs1057521083
rs1057521083
4 0.925 0.200 2 199348709 missense variant G/A snv 0.700 1.000 21 1989 2017
dbSNP: rs122445110
rs122445110
4 0.882 0.200 X 77589902 missense variant A/G snv 0.700 1.000 21 1992 2017
dbSNP: rs137852813
rs137852813
11 0.807 0.200 2 39051202 missense variant A/C;G snv 0.700 1.000 21 2002 2016
dbSNP: rs1557082399
rs1557082399
4 1.000 X 77593803 stop gained C/T snv 0.700 1.000 21 1992 2017
dbSNP: rs397517172
rs397517172
3 0.925 0.160 2 39056704 missense variant T/C snv 0.700 1.000 21 2002 2016