Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1569280235 X 83508802 stop gained C/T snv 1
rs189971962 13 20223085 synonymous variant C/T snv 1.8E-04 3.5E-05 1
rs199750760 22 37983663 missense variant C/A;T snv 5.7E-04; 5.0E-06 1
rs201845656 15 78111266 stop gained G/A snv 6.0E-05 4.2E-05 1
rs2839580 21 42736981 intron variant T/A;G snv 0.44 1
rs35225896
MET
7 116700032 missense variant A/G snv 1.6E-03 6.3E-03 1
rs368854657 15 80881078 missense variant C/T snv 3.6E-05 1.4E-05 1
rs375759781 13 20189108 stop gained G/A;C snv 1.2E-05 1
rs457717 5 76625147 intron variant A/G snv 0.65 1
rs577509855 13 20223387 stop gained G/A snv 2.0E-05 1
rs6132107 20 18726094 intron variant A/G snv 0.14 1
rs748345812 3 69879304 missense variant T/G snv 1
rs750795475 13 20189144 synonymous variant G/A snv 4.0E-06 7.0E-06 1
rs755058488 13 20189186 synonymous variant C/T snv 4.0E-06 7.0E-06 1
rs757572880 3 69879267 missense variant C/G snv 4.0E-06 1
rs760741667
CRX
19 47839399 missense variant A/G snv 2.0E-05 4.2E-05 1
rs765574676 5 90627593 missense variant C/T snv 2.8E-05 7.0E-06 1
rs767255075 7 107700161 missense variant T/C;G snv 1.2E-05; 8.0E-06 1
rs778720579 15 78109499 stop gained G/A snv 2.4E-05 7.7E-05 1
rs781893704 11 77156737 missense variant C/T snv 2.0E-04 4.2E-05 1
rs569681869 0.925 0.040 2 227059468 missense variant C/G snv 7.2E-05 3.5E-05 6
rs777103184 0.827 0.040 2 29073071 stop gained C/T snv 8.0E-06 6
rs533297350 1.000 0.040 2 227010441 missense variant C/T snv 7.2E-05 3.5E-05 5
rs147682682 1.000 0.040 3 69956496 stop gained G/A;T snv 1.2E-05 1.4E-05 4
rs1559749017 0.925 0.040 3 69956531 splice donor variant G/A snv 4