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: rs4994
rs4994
ADRB3
65 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 0.010 1.000 1 2004 2004
dbSNP: rs121434592
rs121434592
AKT1
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.020 1.000 2 2009 2010
dbSNP: rs1200003171
rs1200003171
AKT1
4 0.882 0.120 14 104775122 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs2494737
rs2494737
AKT1
2 0.925 0.080 14 104779988 intron variant T/A snv 0.40 0.010 1.000 1 2016 2016
dbSNP: rs2494750
rs2494750
AKT1
2 0.925 0.080 14 104796575 upstream gene variant G/C snv 0.86 0.010 < 0.001 1 2015 2015
dbSNP: rs2498796
rs2498796
AKT1
1 1.000 0.080 14 104776883 non coding transcript exon variant G/A snv 0.33 0.700 1.000 1 2016 2016
dbSNP: rs72715985
rs72715985
AKT1
2 0.925 0.080 14 104797210 upstream gene variant C/T snv 2.6E-02 0.010 < 0.001 1 2015 2015
dbSNP: rs74090038
rs74090038
AKT1
2 0.925 0.080 14 104796444 upstream gene variant C/T snv 0.29 0.010 < 0.001 1 2015 2015
dbSNP: rs2498801
rs2498801
AKT1 ; LOC102723342
7 0.790 0.120 14 104769221 upstream gene variant T/C snv 0.41 0.010 1.000 1 2012 2012
dbSNP: rs892119
rs892119
AKT2 ; LOC107985289
2 0.925 0.080 19 40254165 intron variant C/T snv 0.19 0.010 1.000 1 2012 2012
dbSNP: rs1130409
rs1130409
APEX1
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2012 2012
dbSNP: rs11542041
rs11542041
APOE
23 0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs429358
rs429358
APOE
66 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 0.010 1.000 1 2015 2015
dbSNP: rs1204038
rs1204038
AR
3 0.882 0.160 X 67568383 intron variant G/A snv 0.36 0.010 1.000 1 2009 2009
dbSNP: rs6152
rs6152
AR
9 0.763 0.240 X 67545785 synonymous variant G/A snv 0.15 0.28 0.010 1.000 1 2009 2009
dbSNP: rs4987886
rs4987886
ATM
2 0.925 0.080 11 108225326 5 prime UTR variant A/T snv 3.0E-02 0.010 1.000 1 2007 2007
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.710 1.000 2 2015 2018
dbSNP: rs3768235
rs3768235
BCL10
2 0.925 0.080 1 85267691 missense variant C/T snv 8.0E-06; 6.5E-02 4.5E-02 0.010 1.000 1 2001 2001
dbSNP: rs7579014
rs7579014
BCL11A
2 1.000 0.080 2 60480759 intron variant G/A snv 0.55 0.700 1.000 1 2018 2018
dbSNP: rs9904341
rs9904341
BIRC5
20 0.695 0.280 17 78214286 5 prime UTR variant G/A;C;T snv 0.38; 4.8E-06 0.010 1.000 1 2015 2015
dbSNP: rs60856912
rs60856912
BPTF
1 1.000 0.080 17 67896227 intron variant G/T snv 0.32 0.700 1.000 1 2018 2018
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.020 1.000 2 2009 2013
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 1.000 2 2009 2013
dbSNP: rs2070833
rs2070833
BRCA1
1 1.000 0.080 17 43090832 intron variant G/T snv 2.1E-02 0.010 1.000 1 2015 2015
dbSNP: rs3737559
rs3737559
BRCA1
3 0.882 0.120 17 43082287 intron variant C/T snv 6.9E-02 0.010 1.000 1 2015 2015