Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs267606826 0.708 0.520 14 28767903 stop gained C/A;G;T snv 38
rs767961672 0.925 0.200 14 28767822 missense variant G/A;T snv 4.0E-06 4
rs869312700 0.925 0.200 14 28768100 missense variant G/A snv 3
rs398124204 0.925 0.160 14 28767733 frameshift variant G/-;GG delins 2
rs879255530 0.925 0.160 14 28767832 missense variant A/T snv 2
rs1057516138 1.000 0.120 14 28767833 missense variant G/C;T snv 1
rs1064797186 1.000 0.120 14 28767964 missense variant A/C snv 1
rs121913678 1.000 0.120 14 28768044 stop gained G/A;T snv 1
rs138747073 0.925 0.120 14 28768479 stop gained C/A;G;T snv 6.0E-05 1
rs1452295073 1.000 0.120 14 28767780 frameshift variant G/-;GG delins 1
rs1555321206 1.000 0.120 14 28767449 frameshift variant -/GCCGCCCGCC delins 1
rs1555321237 1.000 0.120 14 28767493 stop gained C/T snv 1
rs1555321294 1.000 0.120 14 28767779 frameshift variant A/- del 1
rs1555321337 1.000 0.120 14 28767992 missense variant G/A snv 1
rs1555321351 1.000 0.120 14 28768043 stop gained G/A snv 1
rs1555321361 1.000 0.120 14 28768103 missense variant G/C snv 1
rs1555321380 1.000 0.120 14 28768223 frameshift variant C/- delins 1
rs1566445169 1.000 0.120 14 28767678 frameshift variant AGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGG/- delins 1
rs1566445489 1.000 0.120 14 28767982 missense variant C/T snv 1
rs1566445533 1.000 0.120 14 28768042 missense variant T/A snv 1
rs267606827 0.925 0.120 14 28768203 stop gained G/A snv 1
rs267606828 1.000 0.120 14 28767922 missense variant T/C snv 1
rs398124202 1.000 0.120 14 28767535 stop gained C/A;G;T snv 1
rs587783629 1.000 0.120 14 28767411 frameshift variant C/-;CC;CCC delins 1
rs587783631 1.000 0.120 14 28767447 frameshift variant ACCCGCCGCC/- delins 1