Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs569681869
COL4A4
0.925 0.040 2 227059468 missense variant C/G snv 7.2E-05 3.5E-05 6
rs10033900
CFI
0.807 0.040 4 109737911 intron variant T/C snv 0.54 5
rs3138141
RDH5 ; BLOC1S1-RDH5
0.827 0.040 12 55721994 3 prime UTR variant C/A snv 0.19 0.16 5
rs533297350
COL4A4
1.000 0.040 2 227010441 missense variant C/T snv 7.2E-05 3.5E-05 5
rs10500355
RBFOX1
0.925 0.040 16 7409346 intron variant T/A snv 0.29 3
rs12193446
LAMA2 ; LOC102723409
0.925 0.040 6 129498893 intron variant A/G snv 6.4E-02 3
rs524952 0.827 0.040 15 34713685 intergenic variant T/A snv 0.50 3
rs7744813
KCNQ5
0.925 0.040 6 72933566 intron variant C/A snv 0.66 3
rs9330813
WNT7B
1.000 0.040 22 45968281 intron variant G/A;C snv 3
rs10089517 0.925 0.040 8 59266162 intergenic variant C/A snv 0.31 2
rs10453441
WNT7B
1.000 0.040 22 45967859 intron variant A/G snv 0.40 2
rs1057518829
CACNA1F
1.000 0.040 X 49230343 stop gained T/A snv 2
rs17400325
PDE11A ; PDE11A-AS1
1.000 0.040 2 177701185 missense variant T/C snv 3.2E-02 2.8E-02 2
rs634990 0.827 0.040 15 34713872 intergenic variant T/C snv 0.48 2
rs9747347
TSPAN10 ; NPLOC4
1.000 0.040 17 81639794 intron variant T/A;C;G snv 2
rs9866391
ZBTB38 ; PXYLP1
1.000 0.040 3 141357242 intron variant T/C snv 0.41 2
rs10034228 0.882 0.040 4 111690594 intergenic variant T/C snv 0.32 1
rs10113215 1.000 0.040 8 59219635 intergenic variant A/G snv 0.33 1
rs10511652
LOC107986990 ; ADAMTSL1
1.000 0.040 9 18362867 intron variant A/G snv 0.54 1
rs10512441 1.000 0.040 17 32912627 regulatory region variant C/T snv 0.21 1
rs1064583
NT5DC1 ; COL10A1
0.925 0.040 6 116125413 missense variant A/C;G snv 0.37 1
rs10824518
KCNMA1
0.882 0.040 10 77303784 intron variant T/A;C snv 1
rs10887265
RGR
1.000 0.040 10 84255817 intron variant G/C snv 0.48 1
rs10892173
DSCAML1 ; LOC107984394 ; FXYD2
1.000 0.040 11 117801846 3 prime UTR variant C/T snv 0.38 1
rs11145488
TJP2
1.000 0.040 9 69156023 intron variant G/A snv 0.19 1