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: rs1555635925
rs1555635925
GUCY2D
1 1.000 0.040 17 8015981 frameshift variant -/CGTGCTCT ins 0.700 0
dbSNP: rs397515360
rs397515360
CNGB3
8 0.807 0.160 8 86643781 frameshift variant G/- del 1.8E-03 0.700 1.000 2 2000 2019
dbSNP: rs869312175
rs869312175
CRX
1 1.000 0.040 19 47839715 frameshift variant C/- del 0.700 1.000 1 2016 2016
dbSNP: rs62645752
rs62645752
CRB1
3 0.882 0.080 1 197328961 frameshift variant ATAGGAA/- delins 0.700 1.000 1 2019 2019
dbSNP: rs750962965
rs750962965
IQCB1
3 0.882 0.200 3 121808978 frameshift variant AA/- delins 1.0E-04 1.4E-04 0.700 1.000 1 2005 2005
dbSNP: rs775796581
rs775796581
CNGB3
5 0.851 0.120 8 86666951 frameshift variant AGTCTGGG/- delins 5.2E-05 7.0E-05 0.700 1.000 1 2000 2000
dbSNP: rs781781440
rs781781440
CDHR1
2 0.925 0.040 10 84200685 frameshift variant -/A delins 8.4E-06; 4.2E-06 2.1E-05 0.700 1.000 1 2019 2019
dbSNP: rs121918844
rs121918844
RPE65
1 1.000 0.040 1 68444665 frameshift variant A/-;AA delins 4.0E-06 0.700 0
dbSNP: rs1553261468
rs1553261468
CRB1
1 1.000 0.040 1 197427543 frameshift variant -/C delins 0.700 0
dbSNP: rs1554125752
rs1554125752
TULP1
2 0.925 0.080 6 35506146 frameshift variant -/G delins 0.700 0
dbSNP: rs1569531639
rs1569531639
RP2
1 1.000 0.040 X 46853857 frameshift variant AGGGC/- delins 0.700 0
dbSNP: rs281865175
rs281865175
CRB1
3 0.882 0.080 1 197477775 frameshift variant CAACTCAGGG/- delins 0.700 0
dbSNP: rs386834239
rs386834239
GUCY2D
1 1.000 0.040 17 8016448 frameshift variant -/ACCA delins 0.700 0
dbSNP: rs386834241
rs386834241
SPATA7
2 0.925 0.080 14 88429394 frameshift variant -/A delins 0.700 0
dbSNP: rs386834243
rs386834243
SPATA7
2 0.925 0.080 14 88438016 frameshift variant A/- delins 0.700 0
dbSNP: rs386834252
rs386834252
LCA5 ; LOC100506851
2 0.925 0.040 6 79489164 frameshift variant G/- delins 4.0E-06 0.700 0
dbSNP: rs386834253
rs386834253
LCA5 ; LOC100506851
2 0.925 0.040 6 79487621 frameshift variant -/T delins 0.700 0
dbSNP: rs386834261
rs386834261
GPHN ; ZFYVE26 ; RDH12
5 0.882 0.080 14 67729337 frameshift variant CCCTG/- delins 9.1E-05 0.700 0
dbSNP: rs574936510
rs574936510
NR2E3
1 1.000 0.040 15 71817619 frameshift variant TTT/-;T;TT delins 4.0E-06 0.700 0
dbSNP: rs61748449
rs61748449
CRX
1 1.000 0.040 19 47839594 frameshift variant G/- delins 0.700 0
dbSNP: rs61749670
rs61749670
GUCY2D
3 0.882 0.080 17 8003434 frameshift variant C/- delins 1.7E-05 7.0E-06 0.700 0
dbSNP: rs61751266
rs61751266
RPGRIP1
2 0.925 0.040 14 21312458 frameshift variant A/- delins 0.700 0
dbSNP: rs62642583
rs62642583
RPE65
3 0.882 0.080 1 68444818 frameshift variant AAATTCTGTTATGACGATCC/- delins 0.700 0
dbSNP: rs727503855
rs727503855
CEP290
6 0.807 0.240 12 88118528 frameshift variant TT/-;T;TTT delins 7.1E-06 0.700 0
dbSNP: rs775978677
rs775978677
NMNAT1
1 1.000 0.040 1 9982521 frameshift variant -/A delins 4.0E-06 7.0E-06 0.700 0