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: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2020 2020
dbSNP: rs61752717
rs61752717
MEFV
72 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.700 0
dbSNP: rs886041065
rs886041065
ASXL2
43 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
dbSNP: rs1057519389
rs1057519389
EBF3
46 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 0
dbSNP: rs1569509136
rs1569509136
HUWE1
24 0.708 0.400 X 53647576 splice acceptor variant T/C snv 0.700 0
dbSNP: rs387907144
rs387907144
ARID1B
34 0.716 0.600 6 157181056 stop gained C/A;T snv 0.700 1.000 2 2012 2015
dbSNP: rs28934906
rs28934906
MECP2
46 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0
dbSNP: rs1554317002
rs1554317002
CDK13 ; LOC112267983
45 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
dbSNP: rs28935468
rs28935468
MECP2
17 0.732 0.240 X 154030912 missense variant G/A snv 0.700 0
dbSNP: rs387906686
rs387906686
SCN2A
23 0.742 0.320 2 165310413 missense variant C/A;T snv 0.700 0
dbSNP: rs1553655558
rs1553655558
TRIP12
43 0.752 0.360 2 229830831 frameshift variant A/- delins 0.700 0
dbSNP: rs121913294
rs121913294
PTEN
14 0.776 0.280 10 87952143 missense variant G/A;C;T snv 8.0E-06 0.700 0
dbSNP: rs786204858
rs786204858
PTEN
11 0.776 0.280 10 87933079 missense variant A/G;T snv 0.700 0
dbSNP: rs1085308046
rs1085308046
PTEN
9 0.790 0.240 10 87933160 missense variant T/C;G snv 0.700 0
dbSNP: rs387906271
rs387906271
CHD7
11 0.790 0.320 8 60801598 splice region variant G/C snv 0.700 0
dbSNP: rs1085308045
rs1085308045
PTEN
8 0.807 0.160 10 87933128 missense variant C/G;T snv 0.700 0
dbSNP: rs886039903
rs886039903
FGF12
6 0.807 0.200 3 192335434 missense variant C/T snv 0.700 0
dbSNP: rs1085308047
rs1085308047
PTEN ; KLLN
6 0.827 0.160 10 87864509 missense variant A/G snv 0.700 0
dbSNP: rs1085308050
rs1085308050
PTEN
7 0.827 0.160 10 87933178 frameshift variant -/A delins 0.700 0
dbSNP: rs1085308054
rs1085308054
PTEN
7 0.827 0.160 10 87952231 frameshift variant AT/- delins 0.700 0
dbSNP: rs1554893835
rs1554893835
PTEN
8 0.827 0.240 10 87894110 splice donor variant G/C;T snv 0.700 0
dbSNP: rs1555582065
rs1555582065
UBTF ; LOC101926967
13 0.827 0.160 17 44212851 missense variant C/T snv 0.700 0
dbSNP: rs529855742
rs529855742
SGSH
15 0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs752134549
rs752134549
RSRC2
6 0.827 0.200 12 122517404 missense variant C/T snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs755246809
rs755246809
AHI1
7 0.827 0.280 6 135404951 frameshift variant T/- delins 5.9E-04 4.9E-05 0.700 0