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: rs72613567
rs72613567
HSD17B13
14 0.742 0.320 4 87310240 splice donor variant -/A delins 0.22 0.030 1.000 3 2019 2020
dbSNP: rs1553631896
rs1553631896
CTNNB1
1 1.000 0.080 3 41233836 frameshift variant -/A delins 0.700 0
dbSNP: rs587776802
rs587776802
PIK3CA
2 1.000 0.080 3 179234358 frameshift variant -/A delins 0.700 0
dbSNP: rs6147150
rs6147150
ERBB4
5 0.827 0.160 2 211380365 3 prime UTR variant -/AAAATAGGATTG delins 0.010 1.000 1 2012 2012
dbSNP: rs57408770
rs57408770
IHH ; MIR3131
2 1.000 0.080 2 219058688 non coding transcript exon variant -/AAG delins 0.010 1.000 1 2017 2017
dbSNP: rs34000982
rs34000982
HMGB1
1 1.000 0.080 13 30459175 3 prime UTR variant -/ATTA delins 0.28 0.010 1.000 1 2020 2020
dbSNP: rs371194629
rs371194629
HLA-G
8 0.790 0.320 6 29830804 3 prime UTR variant -/ATTTGT;ATTTGTTCACGCCT;ATTTGTTCATGCCT ins 0.010 1.000 1 2016 2016
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.100 0.857 14 2005 2017
dbSNP: rs1554043088
rs1554043088
TERT
1 1.000 0.080 5 1294548 frameshift variant -/C delins 0.700 1.000 1 2017 2017
dbSNP: rs3917
rs3917
COL1A2
3 0.925 0.160 7 94431047 3 prime UTR variant -/GCTGTCC;GTTG;GTTGTCC;GTTGTGC ins 0.010 1.000 1 2011 2011
dbSNP: rs56228771
rs56228771
SGSM3 ; MRTFA
5 0.827 0.200 22 40410091 3 prime UTR variant -/GTCT;GTCTGTCT delins 0.010 1.000 1 2014 2014
dbSNP: rs3783553
rs3783553
IL1A
26 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 0.020 1.000 2 2009 2014
dbSNP: rs112395617
rs112395617
JAK1 ; RAVER2
1 1.000 0.080 1 64833868 3 prime UTR variant -/TTAA;TTAATTAA delins 0.010 1.000 1 2018 2018
dbSNP: rs28381975
rs28381975
PDCD6IP ; LOC105377023
5 0.827 0.200 3 33798239 intron variant -/TTACGTACCTGTGCA;TTCCGTACCTGTGCA;TTTCGTACCTGTGCA delins 0.010 1.000 1 2013 2013
dbSNP: rs397514032
rs397514032
APC
1 1.000 0.080 5 112828923 frameshift variant A/- delins 0.700 0
dbSNP: rs1064793929
rs1064793929
TP53
5 0.882 0.280 17 7675167 frameshift variant A/-;AA delins 0.010 1.000 1 2013 2013
dbSNP: rs7763881
rs7763881
HULC ; LOC100506207
11 0.776 0.160 6 8653014 non coding transcript exon variant A/C snv 0.44 0.020 1.000 2 2012 2019
dbSNP: rs1057519959
rs1057519959
SF3B2
4 0.882 0.200 11 66063028 missense variant A/C snv 0.700 1.000 1 2016 2016
dbSNP: rs111904020
rs111904020
STAT3
1 1.000 0.080 17 42314141 3 prime UTR variant A/C snv 0.010 1.000 1 2016 2016
dbSNP: rs12304647
rs12304647
HOXC6 ; MIR196A2
6 0.807 0.160 12 53991163 intron variant A/C snv 0.26 0.010 1.000 1 2016 2016
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: rs139394
rs139394
CBX7
1 1.000 0.080 22 39142209 intron variant A/C snv 0.70 0.010 1.000 1 2019 2019
dbSNP: rs1517352
rs1517352
STAT4
5 0.851 0.160 2 191066738 intron variant A/C snv 0.45 0.700 1.000 1 2013 2013
dbSNP: rs1831583
rs1831583
IFNA1
1 1.000 0.080 9 21439077 upstream gene variant A/C snv 9.5E-03 0.010 1.000 1 2018 2018
dbSNP: rs1990172
rs1990172
MACC1
6 0.827 0.120 7 20164512 intron variant A/C snv 0.27 0.010 1.000 1 2014 2014