Disease: Abnormality of refraction
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs524952 0.827 0.040 15 34713685 intergenic variant T/A snv 0.50 6
rs634990 0.827 0.040 15 34713872 intergenic variant T/C snv 0.48 6
rs17183295
MYO1D
1.000 17 32751254 intron variant C/T snv 0.14 4
rs17648524
RBFOX1
0.882 0.040 16 7409682 intron variant G/C snv 0.29 4
rs7084402 0.925 0.040 10 58505644 intergenic variant A/G snv 0.51 4
rs10500355
RBFOX1
0.925 0.040 16 7409346 intron variant T/A snv 0.29 3
rs1254319
C14orf39
1.000 14 60437039 missense variant G/A snv 0.35 0.36 3
rs1656404 0.925 0.040 2 232515231 regulatory region variant G/A snv 0.18 3
rs7744813
KCNQ5
0.925 0.040 6 72933566 intron variant C/A snv 0.66 3
rs7829127
ZMAT4
0.925 0.040 8 40868875 intron variant A/G snv 0.22 3
rs10882165 1.000 10 93164567 intergenic variant A/T snv 0.39 2
rs11145465
TJP2
1.000 9 69151677 missense variant C/A snv 0.19 2
rs11601239
GRIA4
1.000 11 105685872 intron variant C/G snv 0.48 2
rs12205363
LOC102723409 ; LAMA2
1.000 6 129513484 intron variant T/C;G snv 2
rs12229663
PTPRR
1.000 12 70856216 intron variant A/G;T snv 2
rs12971120
CNDP2
1.000 18 74506788 intron variant A/G snv 0.20 2
rs14165
CACNA1D ; CHDH
1.000 3 53813381 3 prime UTR variant A/G;T snv 2
rs1881492
CHRNG
1.000 2 232542288 intron variant T/C;G snv 2
rs1960445 1.000 4 81009660 intergenic variant C/T snv 0.81 2
rs2184971
PCCA
1.000 13 100165838 intron variant A/G snv 0.49 2
rs235770 1.000 20 6781118 downstream gene variant T/C snv 0.71 2
rs2969180
SHISA6
1.000 17 11504584 intron variant G/A snv 0.34 2
rs3138144
RDH5 ; BLOC1S1-RDH5
1.000 12 55720985 intron variant G/C snv 0.37 2
rs4778879
RASGRF1
1.000 15 79080533 intron variant A/G snv 0.42 2
rs4793501 1.000 17 70722593 intergenic variant C/T snv 0.64 2