Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs200661329
PIGQ
0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 48
rs1232880706
FBN1
0.689 0.440 15 48526247 stop gained C/A;T snv 36
rs137854889
ZMPSTE24
0.742 0.440 1 40290871 frameshift variant T/-;TT delins 31
rs1560755661
TBCK
0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 44
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 33
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs137854539
GNAS
0.716 0.520 20 58903703 missense variant C/T snv 27
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87