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: rs11065756
rs11065756
CCDC63
3 0.925 0.080 12 110900990 intron variant C/T snv 6.1E-02 0.700 1.000 1 2010 2010
dbSNP: rs11066015
rs11066015
ACAD10
5 0.925 0.120 12 111730205 intron variant G/A snv 5.9E-03 0.700 1.000 1 2011 2011
dbSNP: rs11187842
rs11187842
PLCE1
5 0.925 0.080 10 94292754 intron variant C/T snv 7.8E-02 0.700 1.000 1 2012 2012
dbSNP: rs11254327
rs11254327
CUBN
1 10 17006709 intron variant C/T snv 0.40 0.700 1.000 1 2012 2012
dbSNP: rs115510139
rs115510139
COL6A3
6 0.827 0.120 2 237331726 intron variant A/T snv 0.60 0.010 1.000 1 2019 2019
dbSNP: rs11568820
rs11568820
VDR
27 0.672 0.480 12 47908762 intron variant C/T snv 0.38 0.010 1.000 1 2014 2014
dbSNP: rs11674595
rs11674595
IL1R2
13 0.763 0.200 2 101994530 intron variant T/C snv 0.22 0.010 1.000 1 2019 2019
dbSNP: rs11776675
rs11776675
CDH17
1 8 94163787 intron variant T/C snv 0.23 0.700 1.000 1 2012 2012
dbSNP: rs11843987
rs11843987
TFDP1
1 13 113589954 intron variant A/G snv 9.1E-02 0.700 1.000 1 2012 2012
dbSNP: rs11898821
rs11898821
FLACC1
1 2 201334965 intron variant T/C snv 0.46 0.700 1.000 1 2012 2012
dbSNP: rs12438490
rs12438490
OCA2
1 15 28015163 intron variant C/T snv 7.3E-02 0.700 1.000 1 2012 2012
dbSNP: rs12951053
rs12951053
TP53
14 0.732 0.160 17 7674089 intron variant A/C snv 0.10 0.010 1.000 1 2013 2013
dbSNP: rs151181
rs151181
CLN3
2 1.000 0.040 16 28479196 intron variant T/C snv 0.32 0.700 1.000 1 2012 2012
dbSNP: rs153109
rs153109
IL27
37 0.623 0.600 16 28507775 intron variant T/C snv 0.43 0.010 1.000 1 2016 2016
dbSNP: rs1548418
rs1548418
STEAP1B
1 7 22685795 intron variant C/A snv 0.89 0.700 1.000 1 2012 2012
dbSNP: rs1570477
rs1570477
KANK1
1 9 657340 intron variant G/A snv 0.63 0.700 1.000 1 2012 2012
dbSNP: rs16901549
rs16901549
PCAT1 ; LOC105375751
1 8 126583939 intron variant G/T snv 8.6E-03 0.700 1.000 1 2012 2012
dbSNP: rs1737076
rs1737076 		1 6 29757544 intron variant A/G snv 0.45 0.700 1.000 1 2012 2012
dbSNP: rs17728461
rs17728461
HORMAD2 ; LOC105372988
9 0.776 0.120 22 30202563 intron variant C/G snv 0.25 0.010 1.000 1 2015 2015
dbSNP: rs17761864
rs17761864
SMG6
2 1.000 0.040 17 2268343 intron variant C/A snv 0.28 0.800 1.000 1 2012 2012
dbSNP: rs1989969
rs1989969
VDR
8 0.827 0.120 12 47884227 intron variant A/C;G;T snv 0.60 0.010 1.000 1 2014 2014
dbSNP: rs2014300
rs2014300
RUNX1
5 0.851 0.080 21 34985564 intron variant A/G;T snv 0.75 0.700 1.000 1 2011 2011
dbSNP: rs2072472
rs2072472
IL1R2
13 0.732 0.200 2 102026557 intron variant A/G snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs2080304
rs2080304
FLACC1
1 2 201321699 intron variant G/C snv 0.59 0.700 1.000 1 2012 2012
dbSNP: rs2094258
rs2094258
ERCC5 ; BIVM-ERCC5
20 0.701 0.280 13 102844409 intron variant C/T snv 0.18 0.010 1.000 1 2019 2019