Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1060501006
rs1060501006
RPGRIP1L
2 0.925 0.200 16 53671539 frameshift variant -/A;AA delins 0.700 0
dbSNP: rs1064792983
rs1064792983
TMEM67
2 0.925 0.200 8 93803676 splice donor variant ATGAGTAATGTAA/GG delins 0.700 0
dbSNP: rs1182447072
rs1182447072
RPGRIP1L
2 0.925 0.200 16 53641052 frameshift variant A/- del 4.0E-06 0.700 0
dbSNP: rs1277577195
rs1277577195
RPGRIP1L
2 0.925 0.200 16 53687912 stop gained T/A snv 4.2E-05 0.700 0
dbSNP: rs1278679056
rs1278679056
CEP290
3 0.882 0.200 12 88120162 stop gained T/A snv 7.0E-06 0.700 0
dbSNP: rs1554556213
rs1554556213
TMEM67
2 0.925 0.200 8 93795895 splice region variant TTAT/ATAA mnv 0.700 0
dbSNP: rs1555201796
rs1555201796
CEP290
3 0.882 0.200 12 88071370 frameshift variant CTCGT/- del 0.700 0
dbSNP: rs1555205328
rs1555205328
CEP290
3 0.882 0.200 12 88080196 stop gained C/A snv 0.700 0
dbSNP: rs1555212150
rs1555212150
CEP290
3 0.882 0.200 12 88093873 stop gained TC/CA mnv 0.700 0
dbSNP: rs1555599412
rs1555599412
MKS1
5 0.827 0.320 17 58213011 stop gained C/A snv 0.700 0
dbSNP: rs1565822519
rs1565822519
CEP290
3 0.882 0.200 12 88077770 frameshift variant -/T delins 0.700 0
dbSNP: rs368720062
rs368720062
CC2D2A
1 1.000 0.040 4 15596154 missense variant T/C snv 1.3E-05 7.0E-06 0.700 0
dbSNP: rs377177061
rs377177061
CC2D2A
1 1.000 0.040 4 15502879 stop gained C/G;T snv 4.1E-06; 2.9E-05 0.700 0
dbSNP: rs397514753
rs397514753
TMEM231
2 0.925 0.040 16 75542602 missense variant C/T snv 4.0E-06 4.9E-05 0.700 0
dbSNP: rs587777145
rs587777145
CSPP1
2 0.925 0.040 8 67158463 frameshift variant AAGA/- delins 0.700 0
dbSNP: rs587779732
rs587779732
CC2D2A
1 1.000 0.040 4 15596177 missense variant C/A;G;T snv 3.2E-05 0.700 0
dbSNP: rs587779733
rs587779733
CEP290
1 1.000 0.040 12 88084669 frameshift variant T/- delins 0.700 0
dbSNP: rs587779736
rs587779736
TMEM67
1 1.000 0.040 8 93780626 missense variant G/A snv 4.0E-06 2.1E-05 0.700 0
dbSNP: rs730882231
rs730882231
TMEM237
1 1.000 0.040 2 201629229 splice donor variant C/T snv 0.700 0
dbSNP: rs730882232
rs730882232
EVC2
1 1.000 0.040 4 5562881 inframe insertion -/GCATTCAAAAAGTTCTTCTTTTTC delins 4.0E-06 0.700 0
dbSNP: rs730882233
rs730882233
EXOC4 ; LOC101928861
1 1.000 0.040 7 133817543 missense variant A/G snv 0.700 0
dbSNP: rs747323414
rs747323414
CEP290
3 0.882 0.200 12 88084855 splice region variant G/- del 2.6E-05 4.2E-05 0.700 0
dbSNP: rs748951253
rs748951253
TCTN2
2 0.925 0.200 12 123673712 frameshift variant C/-;CC delins 8.0E-06 7.0E-06 0.700 0
dbSNP: rs749987648
rs749987648
RPGRIP1L
2 0.925 0.200 16 53658793 frameshift variant TTTT/-;TTT;TTTTT delins 0.700 0
dbSNP: rs751128300
rs751128300
RPGRIP1L
2 0.925 0.200 16 53649068 stop gained G/A snv 2.0E-05 3.5E-05 0.700 0