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: 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: 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: rs765468645
rs765468645
TMEM67
5 0.882 0.160 8 93765413 stop gained C/T snv 8.0E-06 2.1E-05 0.700 1.000 1 2016 2016
dbSNP: rs886039791
rs886039791
TXNDC15
5 0.882 0.160 5 134893572 inframe deletion AGTTTGGCCCCTCAC/- 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: rs62638179
rs62638179
CEP290
3 0.882 0.200 12 88083077 stop gained C/A snv 3.6E-05 6.3E-05 0.700 1.000 5 2006 2017
dbSNP: rs764309755
rs764309755
CEP290
3 0.882 0.200 12 88083080 frameshift variant TT/- delins 2.8E-05 2.8E-05 0.700 1.000 5 2007 2016
dbSNP: rs747835249
rs747835249
CEP290
4 0.882 0.200 12 88114418 splice donor variant CA/- delins 2.0E-05 0.700 1.000 4 2006 2013
dbSNP: rs1192112844
rs1192112844
CEP290
3 0.882 0.200 12 88118744 splice acceptor variant C/A;T snv 4.2E-06 0.700 1.000 3 2006 2010
dbSNP: rs369523378
rs369523378
CEP290
3 0.882 0.200 12 88083232 splice acceptor variant T/C snv 7.0E-05 4.5E-04 0.700 1.000 3 2006 2010
dbSNP: rs1213286417
rs1213286417
CEP290
3 0.882 0.200 12 88089033 frameshift variant T/- delins 2.8E-05 0.700 1.000 2 2007 2018
dbSNP: rs780225183
rs780225183
CEP290
3 0.882 0.200 12 88114536 stop gained G/A snv 6.8E-06 1.4E-05 0.700 1.000 2 2007 2016
dbSNP: rs143149764
rs143149764
B9D1
3 0.882 0.200 17 19347782 splice donor variant A/G snv 2.8E-05 9.1E-05 0.700 1.000 1 2011 2011