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: rs119489105
rs119489105
MERTK
2 0.925 0.040 2 112008466 stop gained C/T snv 5.6E-05 1.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs387907009
rs387907009
IQCB1
3 0.882 0.200 3 121790166 stop gained C/A snv 1.2E-05 0.700 1.000 1 2011 2011
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: rs1553722736
rs1553722736
IQCB1
1 1.000 0.040 3 121828473 stop gained A/C snv 0.700 0
dbSNP: rs201405662
rs201405662
IQCB1
1 1.000 0.040 3 121828519 stop gained G/A;C snv 3.6E-05; 8.0E-06 0.700 0
dbSNP: rs1051367143
rs1051367143
IMPDH1
1 1.000 0.040 7 128400124 missense variant G/C snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1554347012
rs1554347012
AHI1
1 1.000 0.040 6 135442577 splice region variant C/A snv 0.700 0
dbSNP: rs794727166
rs794727166
PDE6A
1 1.000 0.040 5 149884474 splice region variant C/A;T snv 0.700 0
dbSNP: rs776291294
rs776291294
SLC7A14 ; SLC7A14-AS1
3 0.882 0.080 3 170480312 missense variant C/T snv 1.5E-05 2.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs2276717
rs2276717
SLC7A14 ; SLC7A14-AS1
4 0.851 0.080 3 170483441 missense variant C/T snv 1.7E-03 5.9E-04 0.010 1.000 1 2019 2019
dbSNP: rs62638214
rs62638214
GRM6
2 0.925 0.080 5 178986393 stop gained G/A snv 1.5E-04 1.2E-04 0.700 1.000 1 2019 2019
dbSNP: rs62645752
rs62645752
CRB1
3 0.882 0.080 1 197328961 frameshift variant ATAGGAA/- delins 0.700 1.000 1 2019 2019
dbSNP: rs114342808
rs114342808
CRB1
3 0.882 0.080 1 197421404 stop gained C/T snv 3.2E-05 1.4E-05 0.700 0
dbSNP: rs1553261468
rs1553261468
CRB1
1 1.000 0.040 1 197427543 frameshift variant -/C delins 0.700 0
dbSNP: rs150412614
rs150412614
CRB1
1 1.000 0.040 1 197427555 stop gained C/A;G;T snv 5.6E-04; 8.0E-06; 1.2E-05 0.700 0
dbSNP: rs62636271
rs62636271
CRB1
3 0.882 0.080 1 197427880 missense variant T/C snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs62645747
rs62645747
CRB1
3 0.882 0.040 1 197429614 missense variant T/A;C snv 0.700 0
dbSNP: rs62645748
rs62645748
CRB1
7 0.807 0.080 1 197434706 missense variant G/A snv 2.1E-04 2.2E-04 0.700 0
dbSNP: rs62636275
rs62636275
CRB1
4 0.851 0.080 1 197435170 missense variant G/A snv 2.8E-05 3.5E-05 0.710 1.000 1 2006 2006
dbSNP: rs62636281
rs62636281
CRB1
2 0.925 0.040 1 197442236 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs760544654
rs760544654
CRB1
1 1.000 0.040 1 197442278 missense variant C/T snv 2.0E-05 0.010 < 0.001 1 2014 2014
dbSNP: rs281865175
rs281865175
CRB1
3 0.882 0.080 1 197477775 frameshift variant CAACTCAGGG/- delins 0.700 0
dbSNP: rs386834260
rs386834260
RD3
2 0.925 0.040 1 211481119 splice donor variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs137853124
rs137853124
RPGRIP1
2 0.925 0.040 14 21294785 stop gained G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs574462207
rs574462207
RPGRIP1
1 1.000 0.040 14 21302561 synonymous variant A/G snv 4.8E-06 1.4E-05 0.700 0