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: rs1064797102
rs1064797102
15 0.827 0.120 8 91071136 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1064797103
rs1064797103
9 0.827 0.280 8 91078597 missense variant A/G snv 0.700 0
dbSNP: rs1131690789
rs1131690789
2 1.000 X 47181316 frameshift variant AG/- delins 0.700 0
dbSNP: rs1281877795
rs1281877795
2 1.000 2 55249467 frameshift variant CTTTTTTCACT/- delins 0.700 0
dbSNP: rs1553878198
rs1553878198
2 1.000 4 26406245 missense variant C/G snv 0.700 0
dbSNP: rs1555740650
rs1555740650
13 0.807 0.240 19 49596253 stop gained G/T snv 0.700 0
dbSNP: rs1555933969
rs1555933969
1 1.000 X 41216161 frameshift variant T/- delins 0.700 0
dbSNP: rs1556024875
rs1556024875
4 0.882 0.160 X 123634002 missense variant G/A snv 0.700 0
dbSNP: rs1557189252
rs1557189252
2 1.000 X 54465532 missense variant G/A snv 0.700 0
dbSNP: rs368313959
rs368313959
8 0.851 0.080 8 91078383 stop gained C/T snv 1.6E-04 1.0E-04 0.700 0
dbSNP: rs397517156
rs397517156
4 0.851 0.200 2 39012333 missense variant T/A snv 0.700 0
dbSNP: rs759317757
rs759317757
12 0.807 0.280 8 91078416 frameshift variant TTAAC/- delins 0.700 0
dbSNP: rs864309508
rs864309508
4 0.925 0.080 15 25356778 frameshift variant CA/- delins 0.700 0
dbSNP: rs886039804
rs886039804
4 0.882 0.120 11 61366050 missense variant A/G snv 0.700 0
dbSNP: rs886039807
rs886039807
11 0.776 0.480 16 75541466 non coding transcript exon variant A/G snv 4.2E-06 0.700 0
dbSNP: rs1555575085
rs1555575085
2 1.000 17 50199309 missense variant C/A snv 0.700 1.000 20 1957 2017
dbSNP: rs1556019107
rs1556019107
3 1.000 X 134415106 stop gained C/T snv 0.700 1.000 6 1962 2016
dbSNP: rs606231193
rs606231193
6 0.925 0.080 X 48902391 frameshift variant AGAG/-;AG;AGAGAG delins 0.700 1.000 6 1962 2011
dbSNP: rs1555911313
rs1555911313
2 1.000 22 41170482 stop gained C/T snv 0.700 1.000 19 1963 2016
dbSNP: rs1555471813
rs1555471813
1 1.000 16 3731235 missense variant C/T snv 0.700 1.000 18 1963 2017
dbSNP: rs1555473499
rs1555473499
4 0.925 0.120 16 3738605 missense variant A/G snv 0.700 1.000 18 1963 2017
dbSNP: rs199821421
rs199821421
6 0.827 0.160 16 3728723 stop gained G/A;T snv 5.2E-05 0.700 1.000 18 1963 2017
dbSNP: rs797044860
rs797044860
3 0.925 0.120 16 3736801 missense variant T/C snv 0.700 1.000 18 1963 2017
dbSNP: rs372754256
rs372754256
3 1.000 1 152307855 stop gained G/C snv 4.7E-04 9.8E-05 0.700 1.000 6 1966 2013
dbSNP: rs1064794276
rs1064794276
NF1
2 0.925 0.120 17 31235639 frameshift variant TTTG/- delins 0.700 1.000 34 1967 2017