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: rs1057519996
rs1057519996
TP53
19 0.701 0.360 17 7675217 splice acceptor variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519997
rs1057519997
TP53
9 0.776 0.320 17 7676037 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520003
rs1057520003
TP53
20 0.695 0.320 17 7675996 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520004
rs1057520004
TP53
12 0.752 0.240 17 7674884 missense variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520007
rs1057520007
TP53
21 0.701 0.440 17 7674917 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520039
rs1057520039
STK11
4 0.882 0.200 19 1207169 stop gained C/G;T snv 0.700 1.000 1 2007 2007
dbSNP: rs1057941
rs1057941
GBAP1
18 0.701 0.280 1 155216951 non coding transcript exon variant G/A;T snv 0.46 0.700 1.000 1 2016 2016
dbSNP: rs1108581
rs1108581
DBH
3 1.000 0.080 9 133640119 intron variant A/G snv 0.27 0.700 1.000 1 2017 2017
dbSNP: rs11119608
rs11119608
KCNH1
17 0.708 0.280 1 210816167 intron variant T/G snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs11168936
rs11168936
TUBA1C
17 0.708 0.280 12 49251457 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs111960002
rs111960002
ZNF623
1 1.000 0.080 8 143640250 intron variant T/C snv 2.7E-02 0.700 1.000 1 2017 2017
dbSNP: rs11200014
rs11200014
FGFR2
19 0.695 0.280 10 121575416 intron variant G/A;T snv 0.34 0.700 1.000 1 2016 2016
dbSNP: rs112233273
rs112233273 		1 1.000 0.080 1 160908636 intergenic variant G/A snv 4.0E-03 0.700 1.000 1 2018 2018
dbSNP: rs11375254
rs11375254
TP63
3 0.882 0.080 3 189625454 intergenic variant A/-;AA;AAA;AAAA delins 0.700 1.000 1 2019 2019
dbSNP: rs113855064
rs113855064
PDS5B
2 0.925 0.120 13 32601963 intron variant T/C snv 6.6E-03 0.700 1.000 1 2017 2017
dbSNP: rs114242735
rs114242735
GPX6
1 1.000 0.080 6 28515140 intron variant T/C snv 0.700 1.000 1 2017 2017
dbSNP: rs114274879
rs114274879
VARS2
1 1.000 0.080 6 30914638 5 prime UTR variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs114665747
rs114665747 		1 1.000 0.080 6 32231204 intergenic variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs114937304
rs114937304
TSBP1 ; TSBP1-AS1
1 1.000 0.080 6 32373094 intron variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs114951367
rs114951367
HLA-DMB
1 1.000 0.080 6 32936274 non coding transcript exon variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs115390513
rs115390513 		1 1.000 0.080 6 31208169 downstream gene variant A/C snv 0.700 1.000 1 2017 2017
dbSNP: rs115392158
rs115392158
HLA-B
17 0.708 0.280 6 31347004 intron variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs11540652
rs11540652
TP53
57 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs115707823
rs115707823 		19 0.701 0.320 6 30374976 intergenic variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs116043036
rs116043036 		1 1.000 0.080 6 28237041 downstream gene variant A/G snv 5.2E-03 0.700 1.000 1 2018 2018