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: rs114971217
rs114971217 		2 0.925 0.080 2 236525150 intergenic variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs11651604
rs11651604 		2 0.925 0.080 17 71440368 regulatory region variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs117114682
rs117114682
PTPRN2
2 0.925 0.080 7 158170200 intron variant A/G snv 2.6E-02 0.700 1.000 1 2017 2017
dbSNP: rs12646911
rs12646911
GLRA3
2 0.925 0.120 4 174701439 intron variant G/A snv 0.75 0.700 1.000 1 2015 2015
dbSNP: rs140236920
rs140236920 		2 0.925 0.120 5 18186317 intergenic variant -/TAAAT delins 0.700 1.000 1 2015 2015
dbSNP: rs147512482
rs147512482 		2 0.925 0.080 22 27215781 intergenic variant C/G snv 2.4E-03 0.700 1.000 1 2017 2017
dbSNP: rs1519277
rs1519277 		2 0.925 0.080 2 123261223 intergenic variant C/T snv 0.12 0.700 1.000 1 2017 2017
dbSNP: rs17020562
rs17020562
RPS6KC1
2 0.925 0.080 1 213369363 intergenic variant T/C snv 5.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs2229774
rs2229774
RARG
3 0.882 0.280 12 53211761 missense variant G/A snv 7.3E-02 7.3E-02 0.700 1.000 1 2015 2015
dbSNP: rs35669975
rs35669975 		2 0.925 0.120 13 107138053 intergenic variant C/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs4342822
rs4342822
PROX1-AS1 ; LOC105372912
3 0.882 0.080 1 213850882 intron variant G/T snv 0.62 0.700 1.000 1 2017 2017
dbSNP: rs4930561
rs4930561
KMT5B
2 0.925 0.080 11 68164294 intron variant G/A snv 0.54 0.700 1.000 1 2017 2017
dbSNP: rs4971486
rs4971486 		2 0.925 0.120 2 4847728 regulatory region variant C/G snv 0.23 0.700 1.000 1 2015 2015
dbSNP: rs74949440
rs74949440
TAGLN ; LOC100652768
2 0.925 0.080 11 117199645 5 prime UTR variant C/G;T snv 1.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2017 2017
dbSNP: rs1056892
rs1056892
CBR3 ; CBR3-AS1
6 0.882 0.160 21 36146408 missense variant G/A snv 0.37 0.39 0.020 1.000 2 2008 2012
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2017 2017
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 1.000 2 2017 2017
dbSNP: rs1130409
rs1130409
APEX1
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2007 2007
dbSNP: rs11615
rs11615
ERCC1
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2017 2017
dbSNP: rs1172822
rs1172822
BRSK1 ; TMEM150B
2 1.000 0.040 19 55308477 intron variant C/T snv 0.34 0.010 1.000 1 2013 2013
dbSNP: rs121912664
rs121912664
TP53
44 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs17863783
rs17863783
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A9
5 0.827 0.200 2 233693631 synonymous variant G/T snv 3.8E-02 5.5E-02 0.010 1.000 1 2016 2016
dbSNP: rs1800372
rs1800372
TP53
15 0.752 0.240 17 7674892 synonymous variant T/A;C snv 1.3E-02 0.010 1.000 1 2017 2017
dbSNP: rs1805389
rs1805389
LIG4
4 0.882 0.080 13 108211261 missense variant G/A;C;T snv 5.7E-02; 4.1E-06 0.010 1.000 1 2017 2017