Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1314314373
BCL11B
1.000 14 99176115 stop gained G/A;C snv 4.1E-06 4
rs137853063
VRK1
0.882 0.080 14 96876033 stop gained C/G;T snv 6.4E-05; 4.0E-06 3
rs1555447465
NR2F2
15 96337474 missense variant G/C snv 1
rs1555447237
NR2F2
1.000 15 96334573 missense variant T/C snv 2
rs1555446980
MIR1469 ; NR2F2
1.000 15 96332169 stop gained C/T snv 2
rs140430952
TGDS
1.000 0.120 13 94590868 missense variant C/A;T snv 3.3E-04; 2.9E-05 2
rs797044953
SETD5
1.000 3 9447684 splice acceptor variant A/T snv 3
rs72658127
COL1A2
1.000 7 94413139 splice region variant A/G snv 2
rs1554396271
COL1A2
0.925 0.120 7 94410899 missense variant G/A;T snv 3
rs397514481
PLCB4
0.882 0.040 20 9409080 missense variant G/A;T snv 5
rs201893408
TMEM67
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 28
rs775883520
TMEM67
0.851 0.240 8 93780603 missense variant A/G snv 8.0E-06 7.0E-06 6
rs1554336981
SAMD9
7 93103178 missense variant C/T snv 1
rs1553284965
RPL5 ; DIPK1A
1 92833459 splice donor variant G/A snv 1
rs1442840881
VPS33B
15 91006391 frameshift variant -/G delins 4.0E-06 2.1E-05 1
rs398122407
VPS33B
1.000 0.200 15 91004872 splice region variant C/G snv 2.0E-05 2
rs1555625571
TUBB3
16 89934974 missense variant G/C snv 2
rs781752990
KIF7
1.000 15 89652601 splice donor variant A/C snv 3.5E-05 4.2E-05 2
rs764358419
CHMP1A
1.000 16 89649495 splice region variant G/A;T snv 1.6E-05; 1.2E-05 2
rs1555529572
ANKRD11
1.000 16 89284912 frameshift variant GTGCTGGT/- delins 2
rs1555528558
ANKRD11
1.000 16 89283207 frameshift variant -/T delins 3
rs797044890
ANKRD11
16 89275092 splice donor variant C/T snv 1
rs267604368
ACAN
1.000 15 88858712 stop gained G/A;T snv 2
rs1554139771
MEF2C
5 88804732 stop gained CA/- delins 3
rs1131692280
PKD2
0.925 0.120 4 88043458 splice donor variant G/A snv 8.0E-06 1.4E-05 3