Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1009298200
ALG1
0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06 34
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 33
rs1232880706
FBN1
0.689 0.440 15 48526247 stop gained C/A;T snv 36
rs1273330603
GJB2
1.000 0.080 13 20189094 missense variant A/G snv 2.8E-05 3
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs1294950721
JAG1
0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 27
rs1344172059
ABCC8
0.882 0.080 11 17430838 missense variant C/T snv 7.0E-06 12
rs137854539
GNAS
0.716 0.520 20 58903703 missense variant C/T snv 27
rs137854889
ZMPSTE24
0.742 0.440 1 40290871 frameshift variant T/-;TT delins 31
rs1400419650
TRIP11
0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05 38
rs141322087
ABCC8
0.851 0.160 11 17404552 missense variant C/T snv 1.2E-05 2.1E-05 13
rs1421405659
MYBPC1
0.851 0.360 12 101642529 missense variant T/C;G snv 13
rs151344517
LOC107985154 ; AFG3L2 ; TUBB6
0.742 0.320 18 12337505 missense variant C/T snv 31
rs1554199368
NSD1
0.827 0.160 5 177256956 missense variant C/T snv 12
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv 54
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv 27
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37
rs1555386022
TRIP11
0.708 0.320 14 92003418 splice donor variant C/A snv 38
rs1555452127
ALG1
0.742 0.400 16 5079078 missense variant T/C snv 34
rs1555564126
EFTUD2
0.882 0.320 17 44853306 frameshift variant C/- delins 9
rs1560755661
TBCK
0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 44
rs1563221666
SFTPC
0.882 0.120 8 22162694 missense variant C/T snv 14
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv 45
rs1569162748
OFD1
0.925 0.120 X 13767142 frameshift variant AAATT/- del 7
rs180177039
BRAF
0.851 0.160 7 140778006 missense variant T/A;C;G snv 12