Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs368720062
CC2D2A
1.000 0.040 4 15596154 missense variant T/C snv 1.3E-05 7.0E-06 1
rs377177061
CC2D2A
1.000 0.040 4 15502879 stop gained C/G;T snv 4.1E-06; 2.9E-05 1
rs587779732
CC2D2A
1.000 0.040 4 15596177 missense variant C/A;G;T snv 3.2E-05 1
rs587779733
CEP290
1.000 0.040 12 88084669 frameshift variant T/- delins 1
rs730882232
EVC2
1.000 0.040 4 5562881 inframe insertion -/GCATTCAAAAAGTTCTTCTTTTTC delins 4.0E-06 1
rs730882233
EXOC4 ; LOC101928861
1.000 0.040 7 133817543 missense variant A/G snv 1
rs730882231
TMEM237
1.000 0.040 2 201629229 splice donor variant C/T snv 1
rs587779736
TMEM67
1.000 0.040 8 93780626 missense variant G/A snv 4.0E-06 2.1E-05 1
rs758036385
CC2D2A
0.925 0.200 4 15586169 stop gained C/T snv 4.0E-06 7.0E-06 2
rs587777145
CSPP1
0.925 0.040 8 67158463 frameshift variant AAGA/- delins 2
rs766392300
MKS1
0.925 0.200 17 58207105 missense variant G/A;C;T snv 1.2E-05 2
rs773036963
MKS1
0.925 0.200 17 58213871 splice acceptor variant T/A snv 4.0E-06 2
rs786204222
MKS1
0.925 0.200 17 58216694 missense variant A/C;G snv 2
rs1060501006
RPGRIP1L
0.925 0.200 16 53671539 frameshift variant -/A;AA delins 2
rs1182447072
RPGRIP1L
0.925 0.200 16 53641052 frameshift variant A/- del 4.0E-06 2
rs1277577195
RPGRIP1L
0.925 0.200 16 53687912 stop gained T/A snv 4.2E-05 2
rs749987648
RPGRIP1L
0.925 0.200 16 53658793 frameshift variant TTTT/-;TTT;TTTTT delins 2
rs751128300
RPGRIP1L
0.925 0.200 16 53649068 stop gained G/A snv 2.0E-05 3.5E-05 2
rs756821449
RPGRIP1L
0.925 0.200 16 53657545 stop gained C/A snv 2.0E-05 7.0E-06 2
rs757594906
RPGRIP1L
0.925 0.200 16 53672927 frameshift variant G/- del 4.0E-06 2
rs778824093
RPGRIP1L
0.925 0.200 16 53641364 frameshift variant AA/- del 8.0E-06 2.1E-05 2
rs748951253
TCTN2
0.925 0.200 12 123673712 frameshift variant C/-;CC delins 8.0E-06 7.0E-06 2
rs760034947
TCTN2
0.925 0.200 12 123679246 frameshift variant -/T delins 7.0E-06 2
rs915737037
TCTN2
0.925 0.200 12 123686922 frameshift variant -/CTCTGCTC delins 2.1E-05 2
rs397514753
TMEM231
0.925 0.040 16 75542602 missense variant C/T snv 4.0E-06 4.9E-05 2