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: rs11368509
rs11368509
UPP2
1 1.000 0.040 2 158102039 frameshift variant -/A ins 8.0E-05; 6.3E-02 0.10 0.010 1.000 1 2014 2014
dbSNP: rs2307981
rs2307981
SYN2
1 1.000 0.040 3 12022928 intron variant -/ACA delins 0.64 0.010 1.000 1 2004 2004
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.030 1.000 3 2001 2011
dbSNP: rs56807175
rs56807175 		1 1.000 0.040 2 145678654 intron variant -/C ins 0.16 0.700 1.000 1 2018 2018
dbSNP: rs869312832
rs869312832
SETD1A
1 1.000 0.040 16 30966051 frameshift variant -/C delins 0.700 1.000 1 2016 2016
dbSNP: rs1135401891
rs1135401891
BRCA2
7 0.790 0.280 13 32332796 frameshift variant -/CT ins 0.010 1.000 1 2018 2018
dbSNP: rs1799732
rs1799732
DRD2 ; LOC105369501
11 0.790 0.160 11 113475529 intron variant -/G delins 0.050 1.000 5 2007 2019
dbSNP: rs11409090
rs11409090
TBC1D5
1 1.000 0.040 3 17846143 intron variant -/T delins 0.53 0.700 1.000 1 2018 2018
dbSNP: rs5891007
rs5891007
LSM1 ; LOC105379382
1 1.000 0.040 8 38163492 3 prime UTR variant -/T delins 0.20 0.700 1.000 1 2017 2017
dbSNP: rs10650434
rs10650434
MAD1L1
1 1.000 0.040 7 1985461 intron variant -/TC delins 0.57 0.700 1.000 1 2018 2018
dbSNP: rs34269918
rs34269918
RERE
1 1.000 0.040 1 8364925 intron variant A/- delins 0.69 0.700 1.000 1 2018 2018
dbSNP: rs34685708
rs34685708
SLC4A10
1 1.000 0.040 2 161972220 intron variant A/- delins 0.38 0.700 1.000 1 2018 2018
dbSNP: rs3840846
rs3840846
NPTN
1 1.000 0.040 15 73633678 5 prime UTR variant A/- del 1.4E-02 0.010 1.000 1 2007 2007
dbSNP: rs146678232
rs146678232
GSDME
1 1.000 0.040 7 24737471 intron variant A/-;AA delins 0.15 0.700 1.000 1 2018 2018
dbSNP: rs312262717
rs312262717
SPG11
18 0.790 0.240 15 44659104 frameshift variant A/-;AA delins 0.700 1.000 1 2009 2009
dbSNP: rs5825114
rs5825114
LOC105372125
1 1.000 0.040 18 55081986 intergenic variant A/-;AA delins 0.700 1.000 1 2018 2018
dbSNP: rs11439302
rs11439302
LINC02246
1 1.000 0.040 21 14869414 intron variant A/-;AA;AAA delins 0.700 1.000 1 2017 2017
dbSNP: rs139425113
rs139425113
CSMD1
1 1.000 0.040 8 4323090 intron variant A/-;AA;AAA delins 0.700 1.000 1 2018 2018
dbSNP: rs4129585
rs4129585
TSNARE1 ; LOC107986983
4 1.000 0.040 8 142231572 intron variant A/C snv 0.68 0.810 1.000 8 2013 2019
dbSNP: rs10878577
rs10878577 		1 1.000 0.040 12 67200061 intergenic variant A/C snv 0.64 0.700 1.000 3 2015 2019
dbSNP: rs138880
rs138880
BRD1
1 1.000 0.040 22 49824963 intron variant A/C snv 0.36 0.820 0.667 3 2010 2017
dbSNP: rs17687067
rs17687067
ZDHHC2
1 1.000 0.040 8 17178692 intron variant A/C snv 0.17 0.700 1.000 3 2015 2019
dbSNP: rs2767713
rs2767713
LOC105376107
2 1.000 0.040 9 82184622 intron variant A/C snv 0.33 0.700 1.000 3 2017 2019
dbSNP: rs6466055
rs6466055
SRPK2
1 1.000 0.040 7 105288617 intron variant A/C snv 0.60 0.700 1.000 3 2014 2019
dbSNP: rs9370822
rs9370822
DTNBP1 ; LOC105374947
7 0.882 0.120 6 15544505 intron variant A/C snv 0.36 0.030 1.000 3 2010 2011