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: rs1805097
rs1805097
IRS2
22 0.689 0.360 13 109782884 missense variant C/G;T snv 0.35 0.010 1.000 1 2006 2006
dbSNP: rs773442580
rs773442580
EGF
7 0.851 0.080 4 109913367 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs7993934
rs7993934
COL4A2
9 0.790 0.080 13 110422568 intron variant C/T snv 0.56 0.700 1.000 1 2019 2019
dbSNP: rs8000189
rs8000189
COL4A2
10 0.776 0.080 13 110423534 intron variant C/T snv 0.61 0.700 1.000 1 2019 2019
dbSNP: rs9481067
rs9481067
SLC22A16
10 0.776 0.080 6 110429349 intron variant A/G snv 0.58 0.700 1.000 1 2018 2018
dbSNP: rs10980628
rs10980628
LPAR1
10 0.776 0.080 9 110909123 intron variant T/C snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs4849303
rs4849303
ACOXL
9 0.790 0.080 2 110970905 intron variant C/G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs3087967
rs3087967
C11orf53
10 0.776 0.080 11 111286111 3 prime UTR variant T/C snv 0.72 0.700 1.000 2 2019 2019
dbSNP: rs3802842
rs3802842
COLCA2 ; COLCA1
25 0.695 0.280 11 111300984 intron variant C/A snv 0.71 0.720 1.000 9 2008 2019
dbSNP: rs6589219
rs6589219
COLCA2 ; COLCA1
9 0.790 0.080 11 111302186 intron variant G/C snv 0.69 0.700 1.000 1 2018 2018
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 4 2015 2019
dbSNP: rs597808
rs597808
ATXN2
19 0.742 0.200 12 111535554 intron variant A/G snv 0.67 0.700 1.000 2 2019 2019
dbSNP: rs12241008
rs12241008
VTI1A
16 0.716 0.160 10 112520943 intron variant T/C snv 0.13 0.700 1.000 3 2014 2019
dbSNP: rs12246635
rs12246635
VTI1A
10 0.776 0.080 10 112528860 intron variant T/C snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs12255141
rs12255141
VTI1A
9 0.790 0.080 10 112535133 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10506868
rs10506868
VTI1A
16 0.716 0.160 10 112559621 intron variant C/T snv 3.1E-02 0.700 1.000 1 2016 2016
dbSNP: rs755229494
rs755229494
APC
10 0.776 0.080 5 112761654 intron variant A/G snv 9.6E-04 0.700 1.000 1 2019 2019
dbSNP: rs777980327
rs777980327
APC
21 0.716 0.280 5 112837567 missense variant A/T snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2007 2007
dbSNP: rs1380087059
rs1380087059
APC
3 0.882 0.160 5 112837749 missense variant G/C snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs587781394
rs587781394
APC
3 0.882 0.160 5 112837812 missense variant G/A;C snv 4.0E-06; 8.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs137854575
rs137854575
APC
9 0.807 0.120 5 112838399 stop gained C/A;G;T snv 4.7E-04 0.700 0
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.100 0.800 10 1997 2004
dbSNP: rs1801155
rs1801155
APC
42 0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 0.800 0.800 10 1997 2004
dbSNP: rs387906234
rs387906234
APC
7 0.827 0.120 5 112839979 frameshift variant AGAG/-;AG delins 0.700 0
dbSNP: rs459552
rs459552
APC
14 0.752 0.320 5 112841059 missense variant T/A;G snv 0.79 0.010 1.000 1 2001 2001