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: rs12998806
rs12998806
LOC101928278 ; LOC105373874
2 0.925 2 217029040 intergenic variant G/A snv 0.18 0.710 1.000 1 2016 2016
dbSNP: rs11251942
rs11251942
LOC105376360
1 1.000 10 3554755 intron variant G/A snv 0.36 0.700 1.000 1 2019 2019
dbSNP: rs12586722
rs12586722 		2 1.000 14 70423423 downstream gene variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs12938141
rs12938141
RAP1GAP2
1 1.000 17 3000998 intron variant T/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs140538758
rs140538758
CBFB
1 1.000 16 67082698 intron variant C/G snv 1.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs2981579
rs2981579
FGFR2
8 0.776 0.280 10 121577821 intron variant A/G snv 0.53 0.700 1.000 1 2017 2017
dbSNP: rs4717568
rs4717568 		1 1.000 7 70935714 regulatory region variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs587150
rs587150 		1 1.000 6 167818409 intron variant G/A snv 0.89 0.700 1.000 1 2019 2019
dbSNP: rs62235635
rs62235635
PITPNB ; TTC28-AS1 ; MIR3199-2
2 0.925 0.080 22 27918624 intron variant G/A snv 4.9E-03 0.700 1.000 1 2019 2019
dbSNP: rs6938753
rs6938753
LINC01600 ; LINC02521
1 1.000 6 2634705 non coding transcript exon variant C/G snv 0.23 0.700 1.000 1 2019 2019
dbSNP: rs7082321
rs7082321
SFMBT2
1 1.000 10 7272478 intron variant C/T snv 0.60 0.700 1.000 1 2019 2019
dbSNP: rs73370840
rs73370840
SLC19A1 ; COL18A1
1 1.000 21 45497121 intron variant C/T snv 0.14 0.16 0.700 1.000 1 2019 2019
dbSNP: rs79116769
rs79116769
SLC25A4
1 1.000 4 185141891 upstream gene variant C/T snv 5.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs10069690
rs10069690
TERT
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.010 1.000 1 2016 2016
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2004 2004
dbSNP: rs10771399
rs10771399 		5 0.827 0.080 12 28002147 intergenic variant A/G snv 8.9E-02 0.010 1.000 1 2012 2012
dbSNP: rs10822013
rs10822013
ZNF365
4 0.851 0.080 10 62492218 intron variant C/T snv 0.42 0.010 1.000 1 2016 2016
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2004 2004
dbSNP: rs121434592
rs121434592
AKT1
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs12443621
rs12443621
TOX3
6 0.807 0.120 16 52514125 intron variant A/G snv 0.48 0.010 1.000 1 2010 2010
dbSNP: rs1292011
rs1292011
LOC105370003
4 0.851 0.080 12 115398717 regulatory region variant A/G snv 0.43 0.010 1.000 1 2012 2012
dbSNP: rs13267382
rs13267382
LINC00536
3 0.882 0.080 8 116197325 intron variant A/G snv 0.45 0.010 1.000 1 2017 2017
dbSNP: rs13387042
rs13387042
LOC101928278 ; LOC105373874
16 0.732 0.280 2 217041109 intergenic variant A/G snv 0.44 0.010 1.000 1 2009 2009
dbSNP: rs13689
rs13689
CDH1
4 0.851 0.120 16 68834619 3 prime UTR variant T/A;C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs142697907
rs142697907
PTPN14
1 1.000 1 214510163 intron variant A/G snv 1.0E-02 0.010 1.000 1 2016 2016