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: rs11202592
rs11202592
PTEN ; KLLN
5 0.851 0.200 10 87864461 5 prime UTR variant C/G snv 3.8E-03 1.4E-03 0.010 1.000 1 2014 2014
dbSNP: rs11228565
rs11228565 		3 0.882 0.160 11 69211113 regulatory region variant G/A snv 0.16 0.700 1.000 1 2010 2010
dbSNP: rs11237828
rs11237828
TENM4 ; MIR5579
1 1.000 0.120 11 79422176 mature miRNA variant T/C snv 0.12 0.22 0.010 1.000 1 2015 2015
dbSNP: rs11249433
rs11249433
EMBP1
9 0.827 0.160 1 121538815 intron variant A/C;G snv 0.700 1.000 1 2010 2010
dbSNP: rs1130233
rs1130233
AKT1
13 0.742 0.480 14 104773557 synonymous variant C/T snv 0.30 0.23 0.010 1.000 1 2014 2014
dbSNP: rs1131691003
rs1131691003
TP53
12 0.752 0.360 17 7676381 splice donor variant C/A;G snv 0.700 0
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 0.500 2 2013 2015
dbSNP: rs1131691042
rs1131691042
TP53
12 0.752 0.360 17 7675052 splice donor variant C/T snv 0.700 0
dbSNP: rs115214213
rs115214213
CD44
1 1.000 0.120 11 35231896 3 prime UTR variant T/C snv 4.9E-03 0.010 1.000 1 2014 2014
dbSNP: rs11540652
rs11540652
TP53
57 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.700 0
dbSNP: rs1154865
rs1154865 		3 0.882 0.160 12 73596057 intergenic variant C/G snv 0.22 0.700 1.000 1 2010 2010
dbSNP: rs11556218
rs11556218
IL16
27 0.653 0.600 15 81305928 missense variant T/G snv 9.6E-02 0.12 0.030 1.000 3 2009 2014
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.010 1.000 1 2014 2014
dbSNP: rs11668878
rs11668878
FKRP
2 0.925 0.200 19 46765116 intron variant G/T snv 5.1E-02 0.700 1.000 1 2010 2010
dbSNP: rs11730582
rs11730582
SPP1
10 0.807 0.240 4 87975269 non coding transcript exon variant T/C snv 0.37 0.010 1.000 1 2014 2014
dbSNP: rs117465650
rs117465650
RTN4
1 1.000 0.120 2 55050090 missense variant C/T snv 0.12 6.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs117565607
rs117565607
TRIM26
1 1.000 0.120 6 30204594 intron variant T/A snv 2.3E-03 0.010 1.000 1 2018 2018
dbSNP: rs11865086
rs11865086
MAPK3
1 1.000 0.120 16 30119172 intron variant C/A snv 0.55 0.010 1.000 1 2014 2014
dbSNP: rs11978267
rs11978267
IKZF1
9 0.763 0.240 7 50398606 intron variant A/G snv 0.25 0.700 1.000 1 2010 2010
dbSNP: rs121912651
rs121912651
TP53
53 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.010 < 0.001 1 2015 2015
dbSNP: rs121913483
rs121913483
FGFR3
31 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.010 1.000 1 2001 2001
dbSNP: rs1219648
rs1219648
FGFR2
17 0.716 0.320 10 121586676 intron variant A/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs12220909
rs12220909
FRMD4A ; MIR4293
5 0.827 0.240 10 14383222 mature miRNA variant G/C;T snv 4.9E-03 0.010 1.000 1 2015 2015
dbSNP: rs1229984
rs1229984
ADH1B
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.700 1.000 1 2010 2010
dbSNP: rs12500426
rs12500426
PDLIM5
5 0.851 0.240 4 94593458 intron variant A/C snv 0.54 0.700 1.000 1 2010 2010