Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555144459
PKP2
0.925 0.120 12 32841038 frameshift variant -/A delins 3
rs1555740394
PRR12
0.882 0.120 19 49595234 frameshift variant -/ACCACCC delins 5
rs1553920379
PPP3CA
0.776 0.160 4 101032294 frameshift variant -/AGTA delins 27
rs1555565492
RAI1
0.776 0.160 17 17795417 frameshift variant -/G delins 18
rs1566823361
FGF14
0.742 0.440 13 101726732 frameshift variant -/G delins 18
rs1562114190
IRAK1BP1 ; PHIP
0.790 0.160 6 78946061 frameshift variant A/- delins 21
rs1555640521
LAMA1
0.790 0.320 18 6942110 frameshift variant A/- delins 15
rs1562134961
IRAK1BP1 ; PHIP
0.776 0.320 6 78969879 frameshift variant A/- delins 13
rs1555453538
POLG ; MIR6766
0.807 0.280 15 89326678 frameshift variant A/- delins 7
rs10185592
LOC105373847
1.000 0.040 2 205829457 intergenic variant A/C snv 0.11 1
rs6452305 1.000 0.040 5 25924513 intergenic variant A/C snv 0.69 1
rs9302952
SLC39A11
1.000 0.040 17 73068087 non coding transcript exon variant A/C snv 0.14 1
rs876660634
PTEN
0.807 0.200 10 87925551 missense variant A/C;G snv 10
rs2292305
THBS1 ; FSIP1
0.882 0.080 15 39588621 missense variant A/C;G snv 4.0E-06; 0.16 1
rs3797817
FER
1.000 0.040 5 108948641 intron variant A/C;G snv 1
rs854560
PON1
0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 3
rs757511770
FMN2
0.807 0.280 1 240092656 missense variant A/C;G;T snv 8.0E-06; 4.0E-06 9
rs7741604
CDKAL1
0.925 0.120 6 20731293 intron variant A/C;T snv 2
rs1344706
ZNF804A
0.701 0.160 2 184913701 intron variant A/C;T snv 1
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04 32
rs148881970
NAGLU
0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04 22
rs1060499733
DHX30
0.851 0.120 3 47846757 missense variant A/G snv 11
rs11191454
LOC107984265 ; BORCS7-ASMT ; AS3MT
0.776 0.160 10 102900247 intron variant A/G snv 7.9E-02 5
rs9635542
PPL
1.000 0.040 16 4951379 intron variant A/G snv 0.11 2
rs1057518999
FOXP1
1.000 0.040 3 70977826 splice donor variant A/G snv 1