Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1060501006
RPGRIP1L
0.925 0.200 16 53671539 frameshift variant -/A;AA delins 2
rs762668200
MKS1
0.882 0.320 17 58206543 splice acceptor variant -/C delins 6.5E-05 7.0E-06 3
rs1060499781
CEP290
0.851 0.240 12 88058846 splice region variant -/CC delins 4
rs915737037
TCTN2
0.925 0.200 12 123686922 frameshift variant -/CTCTGCTC delins 2.1E-05 2
rs886039793
MARK4 ; EXOC3L2
0.882 0.120 19 45227667 frameshift variant -/G delins 4
rs730882232
EVC2
1.000 0.040 4 5562881 inframe insertion -/GCATTCAAAAAGTTCTTCTTTTTC delins 4.0E-06 1
rs1565822519
CEP290
0.882 0.200 12 88077770 frameshift variant -/T delins 3
rs778149316
RPGRIP1L
0.882 0.320 16 53652977 frameshift variant -/T delins 4.0E-05 1.8E-04 3
rs760034947
TCTN2
0.925 0.200 12 123679246 frameshift variant -/T delins 7.0E-06 2
rs1182447072
RPGRIP1L
0.925 0.200 16 53641052 frameshift variant A/- del 4.0E-06 2
rs786204222
MKS1
0.925 0.200 17 58216694 missense variant A/C;G snv 2
rs775883520
TMEM67
0.851 0.240 8 93780603 missense variant A/G snv 8.0E-06 7.0E-06 6
rs375170572
LOC105371841 ; MKS1 ; LPO
0.827 0.320 17 58218618 splice donor variant A/G snv 3.2E-05 3.5E-05 5
rs886039804
TMEM138
0.882 0.120 11 61366050 missense variant A/G snv 4
rs143149764
B9D1
0.882 0.200 17 19347782 splice donor variant A/G snv 2.8E-05 9.1E-05 3
rs730882233
EXOC4 ; LOC101928861
1.000 0.040 7 133817543 missense variant A/G snv 1
rs137853108
TMEM67
0.851 0.320 8 93765617 stop gained A/T snv 1.8E-04 2.6E-04 4
rs201502401
CC2D2A
0.882 0.320 4 15599699 missense variant A/T snv 2.0E-04 2.0E-04 3
rs886039803
MKS1
0.925 0.120 17 58216664 splice donor variant A/T snv 3
rs886039805
CEP290
0.925 0.120 12 88129872 frameshift variant AA/- delins 5
rs778824093
RPGRIP1L
0.925 0.200 16 53641364 frameshift variant AA/- del 8.0E-06 2.1E-05 2
rs587777145
CSPP1
0.925 0.040 8 67158463 frameshift variant AAGA/- delins 2
rs386834202
TMEM67
0.851 0.320 8 93765574 frameshift variant AG/- del 4.0E-06; 1.9E-04 5.6E-05 4
rs386833759
CC2D2A
0.851 0.320 4 15580171 splice region variant AGTA/- delins 7.0E-06 4
rs886039791
TXNDC15
0.882 0.160 5 134893572 inframe deletion AGTTTGGCCCCTCAC/- delins 5