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: rs10165970
rs10165970
NPAS2
18 0.708 0.320 2 100840527 intron variant G/A snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs17024869
rs17024869
NPAS2
18 0.708 0.320 2 100843581 intron variant T/C snv 8.3E-02 0.010 1.000 1 2017 2017
dbSNP: rs895520
rs895520
NPAS2
23 0.689 0.320 2 100961475 intron variant G/A snv 0.35 0.010 1.000 1 2017 2017
dbSNP: rs7581886
rs7581886
NPAS2
18 0.708 0.320 2 100964784 intron variant C/T snv 0.92 0.010 1.000 1 2017 2017
dbSNP: rs6214
rs6214
IGF1 ; HELLPAR ; LINC02456
26 0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45 0.010 1.000 1 2018 2018
dbSNP: rs2195239
rs2195239
IGF1 ; LINC02456
7 0.851 0.240 12 102462924 non coding transcript exon variant C/G snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs2162679
rs2162679
IGF1
6 0.851 0.240 12 102477481 intron variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2001389
rs2001389
SUFU
3 0.925 0.120 10 102615501 intron variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs2094258
rs2094258
ERCC5 ; BIVM-ERCC5
20 0.701 0.280 13 102844409 intron variant C/T snv 0.18 0.010 < 0.001 1 2016 2016
dbSNP: rs7859034
rs7859034
SMC2
4 0.851 0.120 9 104103411 intron variant G/T snv 0.60 0.700 1.000 1 2019 2019
dbSNP: rs2417487
rs2417487
SMC2
1 1.000 0.120 9 104125300 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs121434592
rs121434592
AKT1
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1273593548
rs1273593548
PIK3CG
19 0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06 0.010 1.000 1 2015 2015
dbSNP: rs1412335442
rs1412335442
PIK3CG
2 0.925 0.120 7 106868317 missense variant G/T snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs4988483
rs4988483
SSTR5 ; SSTR5-AS1
11 0.752 0.240 16 1079010 missense variant C/A snv 3.7E-02 3.7E-02 0.010 1.000 1 2011 2011
dbSNP: rs4988487
rs4988487
SSTR5 ; SSTR5-AS1
2 0.925 0.120 16 1079193 missense variant C/A;T snv 4.0E-06; 5.3E-02 0.010 1.000 1 2011 2011
dbSNP: rs169068
rs169068
SSTR5 ; SSTR5-AS1
12 0.742 0.280 16 1079872 missense variant C/T snv 0.54 0.50 0.010 1.000 1 2011 2011
dbSNP: rs786203926
rs786203926
ATM
4 0.882 0.120 11 108227678 synonymous variant T/C snv 0.010 1.000 1 2009 2009
dbSNP: rs1801516
rs1801516
ATM
39 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.010 1.000 1 2009 2009
dbSNP: rs200027650
rs200027650
TCHP
1 1.000 0.120 12 109904025 missense variant G/A snv 2.5E-04 1.4E-04 0.700 0
dbSNP: rs11085754
rs11085754
SMARCA4
2 0.925 0.120 19 11017920 intron variant A/G snv 0.41 0.010 1.000 1 2015 2015
dbSNP: rs940553638
rs940553638
ALDH2
6 0.827 0.200 12 111783222 missense variant G/A snv 1.6E-05 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 1.000 1 2009 2009
dbSNP: rs351365
rs351365
WNT2B
1 1.000 0.120 1 112503773 intron variant T/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs7903146
rs7903146
TCF7L2
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.010 1.000 1 2014 2014