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: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.080 0.875 8 1999 2014
dbSNP: rs10759637
rs10759637
SLC31A1 ; CDC26
2 1.000 0.040 9 113262744 3 prime UTR variant A/C snv 0.47 0.010 1.000 1 2018 2018
dbSNP: rs1194611372
rs1194611372
S100A11
9 0.763 0.320 1 152032679 missense variant A/C snv 0.010 1.000 1 2011 2011
dbSNP: rs2298211
rs2298211
TNFRSF4
1 1.000 0.040 1 1211863 intron variant A/C snv 8.1E-02 8.2E-02 0.010 1.000 1 2019 2019
dbSNP: rs735482
rs735482
ERCC1 ; CD3EAP
16 0.742 0.160 19 45408744 missense variant A/C snv 0.21 0.20 0.010 1.000 1 2019 2019
dbSNP: rs765660823
rs765660823
DDR2
4 0.882 0.200 1 162778720 missense variant A/C snv 1.9E-04 0.010 1.000 1 2018 2018
dbSNP: rs1057520001
rs1057520001
TP53
23 0.677 0.360 17 7674886 missense variant A/C;G snv 0.010 1.000 1 2007 2007
dbSNP: rs17879961
rs17879961
CHEK2
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.700 1.000 1 2014 2014
dbSNP: rs35407
rs35407
SLC45A2
6 0.807 0.080 5 33946466 3 prime UTR variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs587782289
rs587782289
TP53
15 0.752 0.240 17 7674257 missense variant A/C;G;T snv 0.010 1.000 1 2005 2005
dbSNP: rs6503659
rs6503659 		2 1.000 0.040 17 41741012 intergenic variant A/C;G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs7208422
rs7208422
TMC8
6 0.807 0.120 17 78134494 missense variant A/C;T snv 4.0E-06; 0.51 0.020 1.000 2 2008 2015
dbSNP: rs1057520004
rs1057520004
TP53
12 0.752 0.240 17 7674884 missense variant A/C;T snv 0.010 1.000 1 1993 1993
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2007 2016
dbSNP: rs2274223
rs2274223
PLCE1
40 0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31 0.020 1.000 2 2012 2013
dbSNP: rs10455872
rs10455872
LPA
33 0.662 0.320 6 160589086 intron variant A/G snv 4.3E-02 0.700 1.000 1 2012 2012
dbSNP: rs1078305
rs1078305
GSN
1 1.000 0.040 9 121289122 intron variant A/G snv 0.70 0.010 1.000 1 2016 2016
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2015 2015
dbSNP: rs11707807
rs11707807
LPP
1 1.000 0.040 3 188370473 intron variant A/G snv 0.36 0.700 1.000 1 2019 2019
dbSNP: rs12296850
rs12296850 		3 0.925 0.080 12 100426307 downstream gene variant A/G snv 8.7E-02 0.710 1.000 1 2013 2013
dbSNP: rs1256046734
rs1256046734
LEPR
12 0.763 0.280 1 65621409 missense variant A/G snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1340420
rs1340420
TNKS2
3 0.925 0.080 10 91857549 intron variant A/G snv 0.71 0.70 0.010 1.000 1 2015 2015
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2019 2019
dbSNP: rs1800625
rs1800625
AGER ; PBX2
39 0.641 0.680 6 32184665 upstream gene variant A/G snv 0.15 0.010 1.000 1 2015 2015