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: rs6147150
rs6147150
ERBB4
5 0.827 0.160 2 211380365 3 prime UTR variant -/AAAATAGGATTG delins 0.010 1.000 1 2016 2016
dbSNP: rs112193369
rs112193369
CAMTA1
1 1.000 0.080 1 7498191 intron variant -/AGTGTG;AGTGTGTG;AGTGTTGGTG;AGTGTTGGTGTG;AGTGTTGGTGTGTG;GGTG delins 0.700 1.000 1 2020 2020
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.060 0.667 6 2007 2016
dbSNP: rs28360317
rs28360317
XRCC4
15 0.716 0.280 5 83323739 intron variant -/CCT delins 0.24 0.010 1.000 1 2011 2011
dbSNP: rs4646284
rs4646284
SLC22A1
2 0.925 0.080 6 160160511 downstream gene variant -/G delins 0.31 0.710 1.000 1 2015 2015
dbSNP: rs200182588
rs200182588
SMC2 ; SMC2-AS1
6 0.827 0.160 9 104094409 5 prime UTR variant -/GC ins 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs3783553
rs3783553
IL1A
26 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 0.010 1.000 1 2018 2018
dbSNP: rs60424486
rs60424486
AGMO
1 1.000 0.080 7 15370686 intron variant -/TTTGAGAGGTGCCT delins 0.700 1.000 1 2020 2020
dbSNP: rs138731641
rs138731641 		1 1.000 0.080 9 80614113 intergenic variant A/-;AA delins 2.9E-02 0.700 1.000 1 2020 2020
dbSNP: rs5799921
rs5799921
LOC107984543
1 1.000 0.080 12 89766754 intron variant A/-;AA delins 0.700 1.000 1 2018 2018
dbSNP: rs6983561
rs6983561
PCAT1 ; CASC19
3 0.925 0.080 8 127094635 intron variant A/C snv 0.17 0.780 1.000 10 2008 2017
dbSNP: rs627928
rs627928
RNASEL
10 0.790 0.080 1 182582202 missense variant A/C snv 0.54 0.49 0.080 0.875 8 2004 2019
dbSNP: rs1902023
rs1902023
UGT2B15
4 0.882 0.080 4 68670366 missense variant A/C snv 0.51 0.53 0.070 0.857 7 2000 2017
dbSNP: rs10761581
rs10761581
NCOA4
2 0.925 0.080 10 46027444 missense variant A/C snv 0.44 0.41 0.010 1.000 1 2011 2011
dbSNP: rs10920531
rs10920531 		2 0.925 0.080 1 202939708 downstream gene variant A/C snv 0.57 0.010 1.000 1 2016 2016
dbSNP: rs1204382931
rs1204382931
CYP1B1 ; CYP1B1-AS1
10 0.790 0.160 2 38075270 missense variant A/C snv 4.3E-06 0.010 1.000 1 2015 2015
dbSNP: rs12500426
rs12500426
PDLIM5
5 0.851 0.240 4 94593458 intron variant A/C snv 0.54 0.700 1.000 1 2009 2009
dbSNP: rs139288166
rs139288166
DLGAP2
1 1.000 0.080 8 755922 intron variant A/C snv 5.9E-03 0.700 1.000 1 2020 2020
dbSNP: rs16834898
rs16834898
PCGEM1
2 0.925 0.080 2 192772562 intron variant A/C snv 0.53 0.010 1.000 1 2013 2013
dbSNP: rs17621345
rs17621345
SUGCT
1 1.000 0.080 7 40835593 intron variant A/C snv 0.21 0.700 1.000 1 2018 2018
dbSNP: rs17886163
rs17886163
CHEK2
2 0.925 0.080 22 28695159 missense variant A/C snv 1.4E-03 5.4E-03 0.010 1.000 1 2016 2016
dbSNP: rs2069762
rs2069762
IL2
23 0.672 0.560 4 122456825 upstream gene variant A/C snv 0.24 0.010 1.000 1 2010 2010
dbSNP: rs2394882
rs2394882
POU5F1 ; TCF19
3 0.882 0.080 6 31164872 splice region variant A/C snv 0.64 0.69 0.010 1.000 1 2017 2017
dbSNP: rs2410373
rs2410373 		6 0.851 0.120 8 16066997 intergenic variant A/C snv 0.34 0.010 1.000 1 2007 2007
dbSNP: rs3208008
rs3208008
TNFRSF6B ; RTEL1 ; RTEL1-TNFRSF6B
2 0.925 0.080 20 63694757 missense variant A/C snv 0.75 0.81 0.010 1.000 1 2019 2019