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: rs1323833193
rs1323833193
EGF
4 0.851 0.160 4 109994859 missense variant C/G snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs755981922
rs755981922
CRELD1
4 0.851 0.160 3 9943440 missense variant G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 2018 2018
dbSNP: rs12325817
rs12325817
PEMT
7 0.807 0.320 17 17583205 intron variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs12676
rs12676
CHDH
5 0.827 0.240 3 53823776 missense variant A/C;T snv 0.77 0.010 1.000 1 2017 2017
dbSNP: rs1800797
rs1800797
IL6 ; STEAP1B ; IL6-AS1
43 0.605 0.800 7 22726602 non coding transcript exon variant A/G snv 0.72 0.010 1.000 1 2017 2017
dbSNP: rs3733890
rs3733890
BHMT ; DMGDH
16 0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28 0.010 1.000 1 2017 2017
dbSNP: rs2424913
rs2424913
DNMT3B
18 0.708 0.440 20 32786453 intron variant C/T snv 0.56 0.53 0.020 1.000 2 2015 2018
dbSNP: rs104893904
rs104893904
NKX2-5
6 0.807 0.160 5 173235023 missense variant C/G snv 1.1E-03 7.1E-04 0.010 1.000 1 2015 2015
dbSNP: rs112735431
rs112735431
RNF213 ; RNF213-AS1
24 0.683 0.320 17 80385145 missense variant G/A;C snv 2.6E-04; 8.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1569686
rs1569686
DNMT3B
15 0.752 0.400 20 32779273 intron variant G/A;C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs28936670
rs28936670
NKX2-5
17 0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02 0.010 1.000 1 2015 2015
dbSNP: rs373667881
rs373667881
TRIB1
5 0.827 0.160 8 125431222 missense variant G/A;T snv 1.1E-03 0.010 1.000 1 2015 2015
dbSNP: rs749628781
rs749628781
CRELD1
3 0.882 0.160 3 9934538 missense variant C/T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs769233111
rs769233111
NKX2-5
3 0.882 0.160 5 173235071 missense variant G/A snv 6.7E-05 2.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs9024
rs9024
CBR1 ; SETD4 ; LOC100133286
3 0.882 0.160 21 36073015 3 prime UTR variant G/A snv 9.7E-02 0.010 1.000 1 2014 2014
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2013 2017
dbSNP: rs11254
rs11254
ETS2
2 0.925 0.120 21 38824464 3 prime UTR variant C/T snv 0.34 0.010 1.000 1 2013 2013
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2013 2013
dbSNP: rs1215380342
rs1215380342
SLC19A1
2 0.925 0.120 21 45531505 missense variant G/A snv 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1353702185
rs1353702185
MDM2
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1532268
rs1532268
MTRR
12 0.776 0.280 5 7878066 missense variant C/T snv 0.31 0.32 0.010 1.000 1 2013 2013
dbSNP: rs2070531
rs2070531
ETS2
2 0.925 0.120 21 38822292 intron variant C/T snv 0.35 0.010 1.000 1 2013 2013
dbSNP: rs562625029
rs562625029
CBS
5 0.827 0.280 21 43058192 stop gained G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs5742905
rs5742905
CBS
22 0.701 0.360 21 43063074 missense variant A/G snv 0.010 1.000 1 2013 2013
dbSNP: rs587781858
rs587781858
TP53
12 0.742 0.360 17 7669671 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2013 2013