Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs138008832 1.000 5 150123142 missense variant G/A;T snv 1.1E-04; 1.6E-05 8
rs1057518839
MPZ
1.000 1 161305924 missense variant A/C snv 4
rs564856283 12 101642495 missense variant G/A;C snv 3.2E-05 3
rs4292394 4 69107231 synonymous variant C/G snv 0.56 0.59 2
rs6600893 4 69113183 downstream gene variant T/C snv 0.59 2
rs6600879 4 69094669 intron variant C/G snv 0.58 1
rs6600880 4 69094762 intron variant T/A snv 0.58 1
rs76732092 11 18358030 missense variant C/A snv 1
rs900147 11 13272293 upstream gene variant G/A snv 0.62 1
rs146170087 0.925 0.040 19 29702747 missense variant T/C snv 2.3E-03 1.1E-03 7
rs515726205 0.882 0.040 19 29702966 missense variant C/T snv 2.4E-05 1.4E-05 7
rs786205232 0.925 0.040 1 110603893 missense variant C/T snv 4.0E-06 5
rs1564282
GAK
1.000 0.040 4 858525 intron variant C/T snv 8.1E-02 3
rs281865051 1.000 0.040 12 40319998 missense variant T/C snv 2
rs35986369 1.000 0.040 3 19950975 frameshift variant -/GG delins 2
rs74315431 0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06 15
rs104894158 0.851 0.080 10 62813835 missense variant A/T snv 5
rs3810651 0.925 0.080 X 152652814 missense variant A/C;T snv 4
rs34016896 0.925 0.080 3 161275076 regulatory region variant C/T snv 0.28 3
rs80356727 0.925 0.080 1 11022400 missense variant C/A snv 3
rs12593813 1.000 0.080 15 67744514 intron variant A/G snv 0.53 2
rs33939927 0.708 0.120 12 40310434 missense variant C/A;G;T snv 4.0E-06; 1.2E-05 24
rs3794087 0.851 0.120 11 35308068 intron variant G/T snv 0.20 6
rs104893878 0.732 0.160 4 89835580 missense variant C/G snv 21
rs2230288
GBA
0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 18