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: rs889312
rs889312 		14 0.732 0.360 5 56736057 regulatory region variant C/A snv 0.69 0.010 1.000 1 2019 2019
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2013 2013
dbSNP: rs2287622
rs2287622
ABCB11
16 0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57 0.010 1.000 1 2011 2011
dbSNP: rs3740066
rs3740066
ABCC2
20 0.724 0.440 10 99844450 missense variant C/G;T snv 2.4E-05; 0.34 0.010 1.000 1 2009 2009
dbSNP: rs11887534
rs11887534
ABCG5 ; ABCG8
29 0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 0.010 1.000 1 2011 2011
dbSNP: rs3197999
rs3197999
APEH ; MST1
16 0.732 0.280 3 49684099 missense variant G/A snv 0.26 0.27 0.010 1.000 1 2013 2013
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2019 2019
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs2072671
rs2072671
CDA
16 0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25 0.010 1.000 1 2019 2019
dbSNP: rs11635252
rs11635252
CRTC3
4 0.925 0.080 15 90528542 upstream gene variant T/C snv 0.88 0.010 1.000 1 2018 2018
dbSNP: rs1126579
rs1126579
CXCR2
8 0.776 0.200 2 218136011 3 prime UTR variant T/C snv 0.62 0.010 1.000 1 2008 2008
dbSNP: rs1126580
rs1126580
CXCR2
3 0.882 0.120 2 218136243 3 prime UTR variant G/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs2230054
rs2230054
CXCR2
2 0.925 0.080 2 218135587 synonymous variant C/T snv 0.48 0.54 0.010 1.000 1 2008 2008
dbSNP: rs1194919682
rs1194919682
CXCR4 ; LOC112268426
2 0.925 0.040 2 136115158 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs7731017
rs7731017
DCTN4
2 0.925 0.080 5 150732056 intron variant T/C snv 8.3E-03 0.700 1.000 1 2018 2018
dbSNP: rs4986938
rs4986938
ESR2
35 0.641 0.600 14 64233098 3 prime UTR variant C/T snv 0.31 0.33 0.010 1.000 1 2010 2010
dbSNP: rs9679162
rs9679162
GALNT14
4 0.882 0.120 2 31024648 intron variant G/T snv 0.48 0.010 1.000 1 2017 2017
dbSNP: rs12979860
rs12979860
IFNL4
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.020 1.000 2 2013 2016
dbSNP: rs17851045
rs17851045
KRAS
27 0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1003723
rs1003723
LDLR ; MIR6886
2 0.925 0.080 19 11113505 non coding transcript exon variant C/A;T snv 4.0E-06; 0.40 0.010 1.000 1 2008 2008
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2012 2012
dbSNP: rs3024270
rs3024270
MRPL23 ; H19 ; HOTS
8 0.776 0.200 11 1996209 non coding transcript exon variant C/G;T snv 0.46; 5.2E-06 0.010 1.000 1 2019 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs763569821
rs763569821
MUC1
4 0.851 0.160 1 155188197 missense variant T/C snv 1.2E-05 0.010 1.000 1 2001 2001