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: rs2981582
rs2981582
FGFR2
21 0.695 0.360 10 121592803 intron variant A/G snv 0.58 0.030 1.000 3 2012 2016
dbSNP: rs1219648
rs1219648
FGFR2
17 0.716 0.320 10 121586676 intron variant A/G;T snv 0.020 1.000 2 2013 2016
dbSNP: rs11856808
rs11856808
LINGO1
5 0.827 0.120 15 77680428 intron variant C/T snv 0.42 0.010 1.000 1 2012 2012
dbSNP: rs11871753
rs11871753
BRIP1
4 0.851 0.120 17 61779284 intron variant A/G snv 0.75 0.010 1.000 1 2018 2018
dbSNP: rs1314913
rs1314913
RAD51B
6 0.807 0.120 14 68232877 intron variant C/T snv 0.13 0.010 1.000 1 2016 2016
dbSNP: rs1333040
rs1333040
CDKN2B-AS1
15 0.732 0.280 9 22083405 intron variant C/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs16945628
rs16945628
BRIP1
4 0.851 0.120 17 61789868 intron variant T/C snv 0.60 0.010 1.000 1 2018 2018
dbSNP: rs1799732
rs1799732
DRD2 ; LOC105369501
11 0.790 0.160 11 113475529 intron variant -/G delins 0.010 1.000 1 2013 2013
dbSNP: rs1816
rs1816
KANSL1
3 0.882 0.200 17 46199252 intron variant A/G snv 0.14 0.010 1.000 1 2002 2002
dbSNP: rs2056202
rs2056202
SLC25A12
4 0.882 0.040 2 171855970 intron variant T/C snv 0.81 0.77 0.010 1.000 1 2008 2008
dbSNP: rs2104286
rs2104286
IL2RA
25 0.662 0.440 10 6057082 intron variant T/C snv 0.18 0.010 1.000 1 2014 2014
dbSNP: rs2292813
rs2292813
SLC25A12
3 0.882 0.040 2 171787719 intron variant T/C snv 0.81 0.010 1.000 1 2008 2008
dbSNP: rs2299941
rs2299941
PTEN
3 0.882 0.080 10 87944962 intron variant A/G snv 9.7E-02 0.010 1.000 1 2018 2018
dbSNP: rs2708861
rs2708861
HUS1
6 0.851 0.120 7 47977120 intron variant T/G snv 0.46 0.010 1.000 1 2012 2012
dbSNP: rs3735273
rs3735273
DDC ; FIGNL1
1 1.000 7 50529166 intron variant C/T snv 0.25 0.27 0.010 1.000 1 2013 2013
dbSNP: rs39399
rs39399
RELN
2 0.925 0.040 7 103849545 intron variant G/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs4434401
rs4434401
CAST
2 0.925 0.040 5 96703321 intron variant T/C snv 0.45 0.010 1.000 1 2013 2013
dbSNP: rs4939827
rs4939827
SMAD7
25 0.708 0.160 18 48927093 intron variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs6974491
rs6974491
ELMO1
6 0.807 0.120 7 37334906 intron variant G/A snv 0.14 0.010 1.000 1 2012 2012
dbSNP: rs7229639
rs7229639
SMAD7
13 0.763 0.080 18 48924606 intron variant A/G snv 0.87 0.010 1.000 1 2014 2014
dbSNP: rs740603
rs740603
COMT
3 0.925 0.040 22 19957654 intron variant A/G snv 0.48 0.010 1.000 1 2013 2013
dbSNP: rs9472817
rs9472817
SLC25A27 ; LOC101926934
3 0.882 0.080 6 46673255 intron variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs965513
rs965513
PTCSC2
15 0.742 0.200 9 97793827 intron variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs13387042
rs13387042
LOC101928278 ; LOC105373874
16 0.732 0.280 2 217041109 intergenic variant A/G snv 0.44 0.010 1.000 1 2014 2014
dbSNP: rs623011
rs623011 		5 0.827 0.320 17 70263305 intergenic variant A/G snv 0.74 0.010 1.000 1 2012 2012