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: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2008 2011
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 1.000 2 2008 2011
dbSNP: rs68062313
rs68062313
ATP8B2
1 1.000 0.080 1 154337120 intron variant A/- del 0.69 0.700 1.000 1 2019 2019
dbSNP: rs765798193
rs765798193
PSMD9
18 0.732 0.320 12 121915884 frameshift variant G/-;GG delins 0.090 1.000 9 2011 2015
dbSNP: rs146052672
rs146052672
HMGA1
5 0.851 0.160 6 34242693 intron variant -/C delins 0.040 1.000 4 2013 2017
dbSNP: rs3842570
rs3842570
CAPN10
2 0.925 0.160 2 240594824 intron variant -/CGGGAGGAGGGTGATGATTCTGTCCCAGGAGC delins 0.720 1.000 2 2010 2011
dbSNP: rs10524523
rs10524523
TOMM40
7 0.807 0.200 19 44899792 intron variant TTTTTTTTTTTTTTTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT delins 0.010 1.000 1 2014 2014
dbSNP: rs10555080
rs10555080
LINC02841
2 1.000 0.080 19 31552265 intron variant GACT/-;GACTGACT delins 0.31 0.700 1.000 1 2019 2019
dbSNP: rs112332300
rs112332300
UBE2E2
1 1.000 0.080 3 23588427 intron variant T/-;TT;TTT;TTTT delins 0.700 1.000 1 2019 2019
dbSNP: rs11390176
rs11390176
IL13RA1
1 1.000 0.080 X 118781201 intron variant A/-;AA;AAA delins 0.700 1.000 1 2019 2019
dbSNP: rs113932007
rs113932007 		1 1.000 0.080 11 115620719 intergenic variant TT/-;T;TTT;TTTT;TTTTT delins 0.700 1.000 1 2017 2017
dbSNP: rs11410487
rs11410487
ITGA1 ; PELO
1 1.000 0.080 5 52798410 intron variant -/T delins 0.91 0.700 1.000 1 2019 2019
dbSNP: rs11435035
rs11435035
AP3S2 ; ARPIN-AP3S2 ; MIR5094
1 1.000 0.080 15 89850718 non coding transcript exon variant TT/-;T;TTT;TTTT;TTTTT;TTTTTTTTTTTT delins 0.700 1.000 1 2019 2019
dbSNP: rs138270994
rs138270994 		2 1.000 0.080 13 22791997 intergenic variant TCTTTG/- delins 2.3E-02 0.700 1.000 1 2018 2018
dbSNP: rs140130268
rs140130268
STARD10 ; ARAP1
1 1.000 0.080 11 72759871 intron variant GTTT/- delins 0.15 0.010 1.000 1 2017 2017
dbSNP: rs140751051
rs140751051
MNX1
1 1.000 0.080 7 157000756 intron variant -/A delins 0.700 1.000 1 2019 2019
dbSNP: rs144226500
rs144226500
FAAH2
1 1.000 0.080 X 57144348 intergenic variant -/T;TT delins 0.700 1.000 1 2019 2019
dbSNP: rs145494032
rs145494032
CDKAL1
1 1.000 0.080 6 20665715 intron variant -/C delins 4.9E-05 0.700 1.000 1 2011 2011
dbSNP: rs149935213
rs149935213
SLC30A8 ; LOC105375716
1 1.000 0.080 8 117158059 intron variant TCT/- delins 2.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs1799750
rs1799750
MMP1 ; WTAPP1
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.010 1.000 1 2016 2016
dbSNP: rs1799774
rs1799774
ENPP1
3 0.882 0.200 6 131882331 intron variant T/- delins 0.010 1.000 1 2006 2006
dbSNP: rs200803778
rs200803778
LINC02010
1 1.000 0.080 3 146921799 non coding transcript exon variant TTTG/- delins 1.0E-02 0.700 1.000 1 2018 2018
dbSNP: rs201486960
rs201486960 		1 1.000 0.080 12 84532353 intergenic variant AAGA/- delins 0.700 1.000 1 2018 2018
dbSNP: rs2066847
rs2066847
NOD2
18 0.716 0.400 16 50729868 frameshift variant C/-;CC delins 1.5E-02 0.010 < 0.001 1 2017 2017
dbSNP: rs3214606
rs3214606
SINHCAF ; FLJ13224
1 1.000 0.080 12 31324008 5 prime UTR variant TAAG/-;TAAGTAAG delins 7.9E-03 0.700 1.000 1 2019 2019