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: rs2971030
rs2971030
LOC105375146
2 0.925 0.080 7 9966714 intron variant C/T snv 0.56 0.700 1.000 1 2018 2018
dbSNP: rs7852462
rs7852462
TMOD1
2 0.925 0.080 9 97548219 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11789015
rs11789015
BARX1
6 0.882 0.080 9 93953746 intron variant A/C;G snv 0.800 1.000 1 2013 2013
dbSNP: rs2178146
rs2178146 		8 0.827 0.080 16 86430089 downstream gene variant T/C snv 0.31 0.700 1.000 1 2013 2013
dbSNP: rs1979654
rs1979654 		2 0.925 0.080 16 86363229 TF binding site variant G/C snv 0.55 0.700 1.000 1 2016 2016
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.030 0.667 3 2010 2013
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.030 0.667 3 2010 2013
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.030 0.667 3 2010 2013
dbSNP: rs28934578
rs28934578
TP53
47 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs13429103
rs13429103
LOC107985847
1 1.000 0.080 2 7377100 intergenic variant G/A snv 0.16 0.710 1.000 1 2018 2018
dbSNP: rs2687202
rs2687202 		2 0.925 0.080 3 70880832 regulatory region variant T/C snv 0.64 0.700 1.000 1 2016 2016
dbSNP: rs2687201
rs2687201 		6 0.925 0.080 3 70879779 intergenic variant A/C;G snv 0.800 1.000 1 2013 2013
dbSNP: rs4676893
rs4676893 		3 0.882 0.080 3 70868488 intergenic variant A/T snv 0.61 0.700 1.000 1 2019 2019
dbSNP: rs1353702185
rs1353702185
MDM2
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.020 0.500 2 2010 2013
dbSNP: rs75783973
rs75783973
TPPP
1 1.000 0.080 5 668194 intron variant G/A snv 2.9E-04 0.700 1.000 1 2016 2016
dbSNP: rs9918259
rs9918259
TPPP ; CEP72
2 0.925 0.080 5 662977 3 prime UTR variant C/T snv 2.1E-03 0.700 1.000 1 2016 2016
dbSNP: rs720321
rs720321
BCL2
1 1.000 0.080 18 63215417 intron variant G/A snv 0.21 0.010 1.000 1 2011 2011
dbSNP: rs17757541
rs17757541
BCL2
7 0.827 0.240 18 63212453 intron variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs76014404
rs76014404
KHDRBS2
1 1.000 0.080 6 61681634 intron variant AAACA/-;AAACAAAACA delins 0.20 0.700 1.000 1 2016 2016
dbSNP: rs62423175
rs62423175 		2 0.925 0.080 6 61485463 intergenic variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs2342002
rs2342002 		1 1.000 0.080 6 61285855 intergenic variant C/T snv 0.23 0.800 1.000 1 2013 2013
dbSNP: rs2434584
rs2434584 		1 1.000 0.080 5 58270246 intergenic variant G/A snv 0.94 0.700 1.000 1 2018 2018
dbSNP: rs2464469
rs2464469
ALDH1A2 ; LOC283665
2 0.925 0.080 15 58069827 intron variant G/A snv 0.65 0.700 1.000 1 2016 2016
dbSNP: rs3784262
rs3784262
ALDH1A2
6 0.882 0.160 15 57960908 intron variant T/A;C snv 0.710 1.000 2 2013 2015
dbSNP: rs11941492
rs11941492
KDR
2 1.000 0.080 4 55112043 intron variant C/T snv 0.24 0.020 1.000 2 2011 2012