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: rs2189517
rs2189517
RAD51B
3 0.882 0.080 14 68536271 intron variant A/G snv 0.49 0.010 1.000 1 2020 2020
dbSNP: rs10484879
rs10484879
IL17A
5 0.827 0.160 6 52187159 intron variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs187115
rs187115
CD44
22 0.695 0.320 11 35154612 intron variant T/C snv 0.37 0.010 1.000 1 2019 2019
dbSNP: rs2275913
rs2275913
IL17A
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs2632159
rs2632159
PCAT1 ; LOC105375751
3 0.882 0.080 8 127021159 intron variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs3748067
rs3748067
IL17A
21 0.672 0.320 6 52190541 3 prime UTR variant C/T snv 6.2E-02 0.010 1.000 1 2019 2019
dbSNP: rs3804513
rs3804513
IL17A
4 0.851 0.080 6 52188399 intron variant A/T snv 2.4E-02 0.010 1.000 1 2019 2019
dbSNP: rs5743030
rs5743030
PMS1
1 1.000 0.080 2 189813819 intron variant G/A snv 0.11 0.010 1.000 1 2019 2019
dbSNP: rs5743100
rs5743100
PMS1
1 1.000 0.080 2 189841127 intron variant G/T snv 9.2E-02 0.010 1.000 1 2019 2019
dbSNP: rs6983267
rs6983267
POU5F1B ; CASC8 ; PCAT1 ; CCAT2
62 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 0.010 1.000 1 2019 2019
dbSNP: rs7747909
rs7747909
IL17A
7 0.790 0.320 6 52189451 3 prime UTR variant G/A snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs1143623
rs1143623
IL1B
29 0.677 0.440 2 112838252 upstream gene variant C/G snv 0.24 0.010 1.000 1 2018 2018
dbSNP: rs202195689
rs202195689
SORCS2 ; MIR4274
1 1.000 0.080 4 7460097 mature miRNA variant -/C;CACCC;CCC delins 0.010 1.000 1 2018 2018
dbSNP: rs2273626
rs2273626
HAUS4 ; MIR4707
2 0.925 0.120 14 22956973 mature miRNA variant C/A snv 0.58 0.41 0.010 1.000 1 2018 2018
dbSNP: rs25531
rs25531
SLC6A4 ; LOC105371720
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs763780
rs763780
IL17F
87 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 0.010 1.000 1 2018 2018
dbSNP: rs937283
rs937283
MDM2
19 0.716 0.200 12 68808384 5 prime UTR variant A/G snv 0.37 0.010 1.000 1 2018 2018
dbSNP: rs956304
rs956304
SLC6A4 ; LOC105371720
1 1.000 0.080 17 30236544 upstream gene variant T/C snv 9.0E-03 0.010 1.000 1 2018 2018
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.030 0.667 3 2017 2019
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 0.500 2 2017 2018
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 0.500 2 2017 2018
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2017 2017
dbSNP: rs1525489
rs1525489 		1 1.000 0.080 7 122993419 downstream gene variant A/G snv 3.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs17268122
rs17268122
ABCC4
2 1.000 0.080 13 95192240 intron variant G/A;C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1799929
rs1799929
NAT2
11 0.776 0.240 8 18400484 synonymous variant C/T snv 0.36 0.36 0.010 1.000 1 2017 2017