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: rs553717
rs553717
GPC5
1 13 91693325 missense variant C/T snv 0.14 0.14 0.010 1.000 1 2010 2010
dbSNP: rs778264641
rs778264641
SND1
1 7 127686719 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs984502020
rs984502020
NR1I2
1 3 119807429 missense variant G/C snv 0.010 1.000 1 2010 2010
dbSNP: rs3917412
rs3917412
SELE ; C1orf112
4 1.000 0.040 1 169731361 intron variant T/A;C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs12438080
rs12438080
CERS3
2 1.000 0.080 15 100541858 intron variant A/C snv 0.50 0.010 1.000 1 2011 2011
dbSNP: rs1305315912
rs1305315912
VEGFA
2 1.000 0.080 6 43770736 synonymous variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs1741981
rs1741981
HDAC1
2 1.000 0.080 1 32290838 upstream gene variant T/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs2830581
rs2830581
ADAMTS5
3 1.000 0.080 21 26921481 3 prime UTR variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs28599926
rs28599926
MIR1268A ; LOC101928039
2 1.000 0.080 15 22225320 mature miRNA variant C/T snv 4.8E-02 0.14 0.010 1.000 1 2016 2016
dbSNP: rs747489687
rs747489687
MCPH1
4 0.925 0.080 8 6444626 frameshift variant AAGAAATATTGCA/- delins 2.3E-04 1.0E-04 0.010 1.000 1 2019 2019
dbSNP: rs894151
rs894151
C8orf37-AS1
2 1.000 0.080 8 95226180 intron variant T/C snv 0.39 0.010 1.000 1 2011 2011
dbSNP: rs9926344
rs9926344
WWOX
2 1.000 0.080 16 78986883 intron variant G/A;C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1057519855
rs1057519855
HRAS ; LRRC56
11 0.776 0.120 11 533873 missense variant CT/AC;TC mnv 0.010 1.000 1 2016 2016
dbSNP: rs1056892
rs1056892
CBR3 ; CBR3-AS1
6 0.882 0.160 21 36146408 missense variant G/A snv 0.37 0.39 0.010 1.000 1 2018 2018
dbSNP: rs1204382931
rs1204382931
CYP1B1 ; CYP1B1-AS1
10 0.790 0.160 2 38075270 missense variant A/C snv 4.3E-06 0.010 1.000 1 2017 2017
dbSNP: rs16949649
rs16949649
NME1 ; NME1-NME2
12 0.776 0.200 17 51152947 upstream gene variant T/C snv 0.39 0.010 1.000 1 2020 2020
dbSNP: rs746830376
rs746830376
EPHB2
4 0.925 0.200 1 22784501 missense variant G/A snv 2.4E-05 3.5E-05 0.010 1.000 1 2016 2016
dbSNP: rs2302254
rs2302254
NME1 ; NME1-NME2
15 0.752 0.240 17 51153539 5 prime UTR variant C/T snv 0.22 0.010 1.000 1 2020 2020
dbSNP: rs391957
rs391957
HSPA5 ; LOC107987127
10 0.763 0.240 9 125241745 non coding transcript exon variant T/C snv 0.72 0.010 1.000 1 2011 2011
dbSNP: rs2853669
rs2853669
TERT
35 0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25 0.010 1.000 1 2013 2013
dbSNP: rs2273535
rs2273535
AURKA
38 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 0.010 1.000 1 2012 2012
dbSNP: rs670
rs670
APOA1 ; APOA1-AS
13 0.763 0.360 11 116837697 5 prime UTR variant C/T snv 0.17 0.010 1.000 1 2013 2013
dbSNP: rs55819519
rs55819519
TP53
40 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.010 1.000 1 2015 2015
dbSNP: rs3761549
rs3761549
FOXP3
18 0.724 0.480 X 49260888 intron variant G/A snv 9.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs121913233
rs121913233
HRAS ; LRRC56
37 0.627 0.520 11 533874 missense variant T/A;C;G snv 0.010 1.000 1 2016 2016