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: rs369203092
rs369203092
ATM
1 1.000 0.120 11 108247117 missense variant T/C snv 8.0E-06 0.700 0
dbSNP: rs371713984
rs371713984
ATM
1 1.000 0.120 11 108247110 missense variant G/A;C snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs567060474
rs567060474
ATM ; C11orf65
1 1.000 0.120 11 108326070 missense variant G/A;T snv 1.0E-04 0.700 0
dbSNP: rs587781894
rs587781894
ATM ; C11orf65
4 0.882 0.360 11 108365360 missense variant G/A;C snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs10936599
rs10936599
MYNN
32 0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21 0.800 1.000 1 2014 2014
dbSNP: rs11636802
rs11636802
LOC105370831
2 0.925 0.120 15 56483399 intergenic variant A/G snv 8.0E-02 0.800 1.000 1 2013 2013
dbSNP: rs13401811
rs13401811
ACOXL
2 0.925 0.120 2 110858527 intron variant G/A snv 0.19 0.800 1.000 1 2013 2013
dbSNP: rs1439287
rs1439287
ACOXL ; ACOXL-AS1 ; MIR4435-2HG
2 0.925 0.120 2 111114320 non coding transcript exon variant G/A snv 0.42 0.800 1.000 1 2014 2014
dbSNP: rs16976734
rs16976734
RFX7
2 0.925 0.120 15 56090097 3 prime UTR variant A/G snv 0.12 0.800 1.000 1 2014 2014
dbSNP: rs17246404
rs17246404
POT1
2 0.925 0.120 7 124822607 3 prime UTR variant C/A;T snv 0.800 1.000 1 2014 2014
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
32 0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54 0.800 1.000 1 2014 2014
dbSNP: rs2236256
rs2236256
OPRM1 ; IPCEF1
2 0.925 0.120 6 154157305 3 prime UTR variant C/A snv 0.52 0.800 1.000 1 2014 2014
dbSNP: rs2466035
rs2466035
PCAT1 ; CASC19
2 0.925 0.120 8 127198984 intron variant T/C snv 0.43 0.800 1.000 1 2013 2013
dbSNP: rs31490
rs31490
CLPTM1L
8 0.776 0.280 5 1344343 splice region variant G/A;T snv 0.37; 8.0E-06 0.800 1.000 1 2014 2014
dbSNP: rs3769825
rs3769825
CASP8
2 0.925 0.120 2 201246657 intron variant A/G snv 0.46 0.800 1.000 1 2013 2013
dbSNP: rs391023
rs391023 		2 0.925 0.120 16 85894208 upstream gene variant C/T snv 0.48 0.800 1.000 1 2013 2013
dbSNP: rs4987852
rs4987852
BCL2
3 0.925 0.120 18 63126688 3 prime UTR variant T/C snv 5.1E-02 0.800 1.000 1 2013 2013
dbSNP: rs4987855
rs4987855
BCL2
2 0.925 0.120 18 63126316 3 prime UTR variant C/T snv 5.9E-02 0.800 1.000 1 2013 2013
dbSNP: rs674313
rs674313 		2 0.925 0.120 6 32610305 intergenic variant C/T snv 0.29 0.800 1.000 1 2011 2011
dbSNP: rs6858698
rs6858698
CAMK2D
2 0.925 0.120 4 113762688 upstream gene variant G/C snv 0.20 0.800 1.000 1 2014 2014
dbSNP: rs7944004
rs7944004 		2 0.925 0.120 11 2289922 intergenic variant T/G snv 0.48 0.800 1.000 1 2013 2013
dbSNP: rs898518
rs898518
LEF1
2 0.925 0.120 4 108095668 intron variant C/A;T snv 0.800 1.000 1 2013 2013
dbSNP: rs926070
rs926070
TSBP1 ; TSBP1-AS1
5 0.827 0.320 6 32289789 intron variant G/A snv 0.68 0.800 1.000 1 2014 2014
dbSNP: rs9272535
rs9272535
HLA-DQA1 ; HLA-DQA2 ; LOC107986589
7 0.827 0.280 6 32638979 synonymous variant G/A snv 3.0E-05 1.8E-03 0.800 1.000 1 2011 2011
dbSNP: rs9273363
rs9273363
HLA-DQB1-AS1
4 0.851 0.280 6 32658495 upstream gene variant C/A snv 0.23 0.800 1.000 1 2013 2013