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: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2018 2018
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.010 1.000 1 2014 2014
dbSNP: rs1330010954
rs1330010954
DLC1
4 0.882 0.080 8 13094897 missense variant C/T snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs2227306
rs2227306
CXCL8
21 0.677 0.680 4 73741338 intron variant C/T snv 0.31 0.010 1.000 1 2015 2015
dbSNP: rs2244444
rs2244444
ARHGEF10L
3 0.882 0.080 1 17520426 intergenic variant C/T snv 0.55 0.010 1.000 1 2019 2019
dbSNP: rs372894000
rs372894000
DLC1
4 0.882 0.080 8 13092766 missense variant C/T snv 2.0E-05 1.4E-05 0.010 1.000 1 2005 2005
dbSNP: rs58542926
rs58542926
TM6SF2
42 0.630 0.440 19 19268740 missense variant C/T snv 6.5E-02 5.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs587782237
rs587782237
TP53
3 0.882 0.080 17 7670637 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs745501336
rs745501336
RAB43 ; ISY1-RAB43
3 0.882 0.080 3 129091263 missense variant C/T snv 4.6E-05 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs756966085
rs756966085
DLC1
4 0.882 0.080 8 13090431 missense variant C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs843711
rs843711
ACYP2
7 0.790 0.200 2 54251980 intron variant C/T snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2015 2015
dbSNP: rs28929474
rs28929474
SERPINA1
37 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.010 1.000 1 2011 2011
dbSNP: rs738409
rs738409
PNPLA3
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.040 0.750 4 2011 2015
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2018 2018
dbSNP: rs6713088
rs6713088
ACYP2
9 0.763 0.200 2 54118332 intron variant C/G snv 0.48 0.010 1.000 1 2017 2017
dbSNP: rs2299939
rs2299939
PTEN
5 0.827 0.080 10 87897393 intron variant C/A;T snv 0.010 < 0.001 1 2015 2015
dbSNP: rs867384693
rs867384693
HDAC3
6 0.851 0.120 5 141625349 missense variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs28934575
rs28934575
TP53
37 0.641 0.400 17 7674230 missense variant C/A;G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs28934571
rs28934571
TP53
31 0.645 0.360 17 7674216 missense variant C/A;G snv 0.030 1.000 3 2018 2019
dbSNP: rs16901979
rs16901979
PCAT1 ; CASC19
17 0.724 0.480 8 127112671 intron variant C/A snv 0.16 0.010 1.000 1 2008 2008
dbSNP: rs843706
rs843706
ACYP2 ; TSPYL6
6 0.807 0.160 2 54253232 3 prime UTR variant C/A snv 0.42 0.010 1.000 1 2017 2017
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2014 2014
dbSNP: rs5854292
rs5854292
EGFEM1P
5 0.851 0.080 3 168680960 intron variant AA/-;A;AAA delins 0.010 1.000 1 2019 2019
dbSNP: rs1682111
rs1682111
ACYP2
13 0.742 0.240 2 54200842 intron variant A/T snv 0.56 0.020 1.000 2 2017 2019