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: rs756821449
rs756821449
RPGRIP1L
2 0.925 0.200 16 53657545 stop gained C/A snv 2.0E-05 7.0E-06 0.700 0
dbSNP: rs757208121
rs757208121
CC2D2A
3 0.882 0.200 4 15527564 stop gained C/T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs757594906
rs757594906
RPGRIP1L
2 0.925 0.200 16 53672927 frameshift variant G/- del 4.0E-06 0.700 0
dbSNP: rs757641323
rs757641323
CEP290
3 0.882 0.200 12 88131209 stop gained G/A snv 1.4E-05 0.700 0
dbSNP: rs758036385
rs758036385
CC2D2A
2 0.925 0.200 4 15586169 stop gained C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs760034947
rs760034947
TCTN2
2 0.925 0.200 12 123679246 frameshift variant -/T delins 7.0E-06 0.700 0
dbSNP: rs760540562
rs760540562
CEP290
3 0.882 0.200 12 88058868 stop gained C/T snv 1.3E-04 2.1E-05 0.700 0
dbSNP: rs766670248
rs766670248
CEP290
3 0.882 0.200 12 88060995 splice acceptor variant C/T snv 4.5E-05 1.4E-05 0.700 0
dbSNP: rs772170760
rs772170760
CEP290
3 0.882 0.200 12 88130553 stop gained T/A snv 1.4E-05 3.5E-05 0.700 0
dbSNP: rs778824093
rs778824093
RPGRIP1L
2 0.925 0.200 16 53641364 frameshift variant AA/- del 8.0E-06 2.1E-05 0.700 0
dbSNP: rs780624853
rs780624853
CEP290
4 0.851 0.240 12 88084835 frameshift variant TTCT/- delins 1.0E-05 2.8E-05 0.700 0
dbSNP: rs781252161
rs781252161
CC2D2A
5 0.827 0.360 4 15533284 stop gained C/T snv 1.8E-05 7.0E-06 0.700 0
dbSNP: rs786204222
rs786204222
MKS1
2 0.925 0.200 17 58216694 missense variant A/C;G snv 0.700 0
dbSNP: rs786205508
rs786205508
MKS1
5 0.851 0.200 17 58208542 stop gained G/A snv 0.700 0
dbSNP: rs863225183
rs863225183
CEP290
4 0.851 0.240 12 88111799 frameshift variant T/- delins 7.0E-06 0.700 0
dbSNP: rs886039791
rs886039791
TXNDC15
5 0.882 0.160 5 134893572 inframe deletion AGTTTGGCCCCTCAC/- delins 0.700 0
dbSNP: rs886039792
rs886039792
TXNDC15
9 0.807 0.280 5 134874531 splice donor variant G/A snv 0.700 0
dbSNP: rs886039793
rs886039793
MARK4 ; EXOC3L2
4 0.882 0.120 19 45227667 frameshift variant -/G delins 0.700 0
dbSNP: rs886039803
rs886039803
MKS1
3 0.925 0.120 17 58216664 splice donor variant A/T snv 0.700 0
dbSNP: rs886039804
rs886039804
TMEM138
4 0.882 0.120 11 61366050 missense variant A/G snv 0.700 0
dbSNP: rs886039805
rs886039805
CEP290
5 0.925 0.120 12 88129872 frameshift variant AA/- delins 0.700 0
dbSNP: rs886039806
rs886039806
KIAA0586
8 0.851 0.160 14 58467887 missense variant T/A;C;G snv 0.700 0
dbSNP: rs886043303
rs886043303
CEP290
5 0.851 0.200 12 88120121 frameshift variant CTCT/- delins 7.0E-06 0.700 0
dbSNP: rs915737037
rs915737037
TCTN2
2 0.925 0.200 12 123686922 frameshift variant -/CTCTGCTC delins 2.1E-05 0.700 0
dbSNP: rs62638180
rs62638180
CEP290
3 0.882 0.200 12 88071819 frameshift variant TAAAG/- delins 4.2E-06 1.4E-05 0.700 1.000 1 2006 2006