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: rs1447295
rs1447295
CASC8
29 0.658 0.400 8 127472793 intron variant A/C;T snv 0.800 0.917 36 2007 2018
dbSNP: rs16901979
rs16901979
PCAT1 ; CASC19
17 0.724 0.480 8 127112671 intron variant C/A snv 0.16 0.800 0.950 20 2007 2018
dbSNP: rs4430796
rs4430796
HNF1B
14 0.790 0.280 17 37738049 intron variant A/G snv 0.52 0.800 1.000 18 2008 2018
dbSNP: rs1859962
rs1859962
CASC17
4 0.882 0.160 17 71112612 intron variant G/T snv 0.56 0.770 0.900 10 2008 2016
dbSNP: rs6983561
rs6983561
PCAT1 ; CASC19
3 0.925 0.080 8 127094635 intron variant A/C snv 0.17 0.780 1.000 9 2008 2017
dbSNP: rs7501939
rs7501939
HNF1B
12 0.776 0.280 17 37741165 intron variant C/T snv 0.41 0.740 1.000 8 2008 2018
dbSNP: rs12653946
rs12653946
CTD-2194D22.4
5 0.882 0.080 5 1895715 intron variant C/T snv 0.43 0.740 1.000 7 2010 2013
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.070 0.714 7 2009 2019
dbSNP: rs339331
rs339331
RFX6
4 0.882 0.080 6 116888889 intron variant T/C snv 0.28 0.760 0.857 7 2010 2016
dbSNP: rs3787016
rs3787016
POLR2E
24 0.677 0.280 19 1090804 intron variant A/G snv 0.78 0.060 1.000 6 2011 2019
dbSNP: rs10486567
rs10486567
JAZF1
9 0.851 0.120 7 27936944 intron variant G/A snv 0.28 0.050 0.800 5 2010 2014
dbSNP: rs16901966
rs16901966
PCAT1 ; CASC19
3 0.925 0.080 8 127098007 intron variant A/G snv 0.13 0.730 1.000 5 2008 2016
dbSNP: rs2234693
rs2234693
ESR1
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.050 0.800 5 2012 2017
dbSNP: rs9340799
rs9340799
ESR1
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.050 0.800 5 2012 2017
dbSNP: rs620861
rs620861
POU5F1B ; CASC8 ; PCAT1 ; CASC21
3 0.925 0.080 8 127323428 intron variant G/A snv 0.36 0.730 0.750 4 2008 2017
dbSNP: rs7837328
rs7837328
POU5F1B ; CASC8 ; PCAT1
8 0.882 0.120 8 127410882 intron variant A/G snv 0.52 0.720 1.000 4 2008 2014
dbSNP: rs11649743
rs11649743
HNF1B ; LOC105371754
2 0.925 0.080 17 37714971 intron variant A/G snv 0.85 0.030 1.000 3 2011 2018
dbSNP: rs13385191
rs13385191
LDAH
4 0.925 0.080 2 20688505 intron variant A/G snv 0.20 0.720 1.000 3 2010 2014
dbSNP: rs1465618
rs1465618
THADA
3 0.882 0.160 2 43326810 intron variant T/C snv 0.80 0.720 0.667 3 2009 2016
dbSNP: rs16902094
rs16902094
CASC8 ; PCAT1 ; CASC21
3 0.882 0.160 8 127308101 intron variant A/G snv 0.15 0.720 1.000 3 2009 2017
dbSNP: rs1800896
rs1800896
IL10 ; IL19
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.030 0.667 3 2011 2017
dbSNP: rs1983891
rs1983891
FOXP4
4 0.925 0.080 6 41568689 intron variant C/T snv 0.35 0.720 1.000 3 2010 2016
dbSNP: rs243865
rs243865
MMP2
48 0.600 0.640 16 55477894 intron variant C/T snv 0.19 0.030 0.333 3 2017 2018
dbSNP: rs2745557
rs2745557
PTGS2 ; PACERR
6 0.807 0.200 1 186680089 intron variant A/G snv 0.83 0.030 1.000 3 2007 2016
dbSNP: rs445114
rs445114
CASC8 ; PCAT1 ; CASC21
3 0.882 0.160 8 127310936 intron variant T/A;C snv 0.700 1.000 3 2009 2013