Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs797044884 0.925 17 59677123 frameshift variant -/GA delins 4
rs797044885 0.925 1 244055156 missense variant A/G snv 4
rs864321692
WAC
0.925 10 28583498 stop gained C/A snv 4
rs869320686 0.882 22 20990476 missense variant G/A snv 4
rs886041081 0.925 4 185144891 missense variant G/A snv 4
rs886041877 1.000 10 87894025 missense variant A/C;G snv 4
rs1045118320 0.925 9 128332219 missense variant C/A snv 7.0E-06 3
rs1064795935 1.000 13 110181389 missense variant C/T snv 3
rs1131690805 0.925 6 26156815 frameshift variant -/G delins 3
rs1182326570 0.925 6 98926883 stop gained T/A snv 8.0E-06 3
rs1242562412 1.000 17 39687906 stop gained C/A snv 2.1E-05 3
rs1304422857 1.000 12 109511304 splice donor variant G/A;T snv 3
rs1313319892 1.000 1 151406306 stop gained G/A;T snv 7.0E-06 3
rs1341894581 0.925 2 232486499 frameshift variant ACCGGGCCCCGGTGGCGCTGCGCGCAGCGCCCAACGGGAAGCCCGG/- delins 3.3E-04 1.1E-04 3
rs1376334317 0.925 3 136473546 missense variant C/T snv 3
rs1382415023
SON
1.000 21 33554945 frameshift variant GAAA/- delins 3
rs142684762 1.000 16 57659478 missense variant A/G snv 3
rs1462161137 1.000 17 76733042 frameshift variant -/A delins 7.0E-06 3
rs147334255
MN1
1.000 22 27750995 stop gained G/A snv 3
rs1553156053 1.000 1 42929652 stop gained G/A snv 3
rs1553212545 1.000 1 151406046 stop gained G/A snv 3
rs1553212626 1.000 1 151406151 frameshift variant -/A delins 3
rs1553212978 1.000 1 151406322 frameshift variant -/T delins 3
rs1553259529
MPZ
1.000 1 161306152 frameshift variant -/C delins 3
rs1553270522 1.000 1 244054804 frameshift variant GATGA/- delins 3