Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 1
rs56807175 1.000 0.040 2 145678654 intron variant -/C ins 0.16 1
rs869312832
SETD1A
1.000 0.040 16 30966051 frameshift variant -/C delins 1
rs1135401891
BRCA2
0.790 0.280 13 32332796 frameshift variant -/CT ins 1
rs11409090
TBC1D5
1.000 0.040 3 17846143 intron variant -/T delins 0.53 1
rs5891007
LSM1 ; LOC105379382
1.000 0.040 8 38163492 3 prime UTR variant -/T delins 0.20 1
rs10650434
MAD1L1
1.000 0.040 7 1985461 intron variant -/TC delins 0.57 1
rs34269918
RERE
1.000 0.040 1 8364925 intron variant A/- delins 0.69 1
rs34685708
SLC4A10
1.000 0.040 2 161972220 intron variant A/- delins 0.38 1
rs312262717
SPG11
0.790 0.240 15 44659104 frameshift variant A/-;AA delins 18
rs146678232
GSDME
1.000 0.040 7 24737471 intron variant A/-;AA delins 0.15 1
rs5825114
LOC105372125
1.000 0.040 18 55081986 intergenic variant A/-;AA delins 1
rs11439302
LINC02246
1.000 0.040 21 14869414 intron variant A/-;AA;AAA delins 1
rs139425113
CSMD1
1.000 0.040 8 4323090 intron variant A/-;AA;AAA delins 1
rs8321
ZNRD1
0.742 0.320 6 30064745 3 prime UTR variant A/C snv 5.4E-02 5.9E-02 15
rs11152369
TCF4
0.851 0.040 18 55399097 intron variant A/C snv 6.3E-02 5
rs17486278
CHRNA5
0.827 0.120 15 78575140 intron variant A/C snv 0.32 5
rs35225200 1.000 0.040 4 102225731 intergenic variant A/C snv 5.4E-02 5
rs1054442
DDN
0.925 0.040 12 48995537 3 prime UTR variant A/C snv 0.46 4
rs17673138
NRG1
0.851 0.040 8 32840440 intron variant A/C snv 8.6E-02 4
rs2239647
AKAP6
0.851 0.080 14 32823537 synonymous variant A/C snv 0.60 0.65 4
rs4129585
TSNARE1 ; LOC107986983
1.000 0.040 8 142231572 intron variant A/C snv 0.68 4
rs137928907
STX2
0.882 0.040 12 130827204 missense variant A/C snv 1.4E-02 1.5E-02 3
rs4380187 0.925 0.040 2 184947213 intergenic variant A/C snv 0.34 3
rs74315457
ARSA
0.851 0.160 22 50626976 missense variant A/C snv 2.3E-04 2.8E-04 3