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: 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: rs6828523
rs6828523
ADAM29
4 0.851 0.080 4 174925275 intron variant C/A snv 0.20 0.010 1.000 1 2014 2014
dbSNP: rs6788895
rs6788895
SIAH2
3 0.882 0.080 3 150750021 intron variant G/T snv 0.18 0.010 1.000 1 2013 2013
dbSNP: rs16917302
rs16917302
ZNF365
5 0.851 0.080 10 62501439 intron variant A/C snv 0.18 0.010 1.000 1 2012 2012
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: rs8170
rs8170
BABAM1 ; USHBP1
13 0.724 0.160 19 17278895 synonymous variant G/A snv 0.15 0.18 0.010 < 0.001 1 2012 2012
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: rs17822931
rs17822931
ABCC11
7 0.827 0.080 16 48224287 missense variant C/G;T snv 4.0E-06; 0.22 0.13 0.010 1.000 1 2019 2019
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: rs992531
rs992531 		1 1.000 8 23608232 intergenic variant G/A snv 8.5E-02 0.010 1.000 1 2018 2018
dbSNP: rs741581
rs741581
PPARGC1B
1 1.000 5 149823222 intron variant G/A snv 6.3E-02 0.010 1.000 1 2011 2011
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: rs192876988
rs192876988
LOC105377300
4 0.851 0.120 4 79376097 intergenic variant T/C snv 1.6E-02 0.010 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: rs190843378
rs190843378 		2 0.925 2 218841159 upstream gene variant C/T snv 1.3E-02 0.010 1.000 1 2017 2017
dbSNP: rs142697907
rs142697907
PTPN14
1 1.000 1 214510163 intron variant A/G snv 1.0E-02 0.010 1.000 1 2016 2016
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: rs370815401
rs370815401
UGT2B17
1 1.000 4 68537650 missense variant G/C;T snv 1.5E-05 2.5E-05 0.010 1.000 1 2015 2015
dbSNP: rs200847762
rs200847762
ATF6B ; FKBPL
7 0.790 0.160 6 32129371 missense variant G/A snv 2.7E-04 1.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs865686
rs865686
LOC105376214
4 0.851 0.080 9 108126198 regulatory region variant G/A;T snv 0.020 1.000 2 2012 2015
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: 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: 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