Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1762111
rs1762111
ABCA4
G 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs201471607
rs201471607
ABCA4
C 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs281865377
rs281865377
ABCA4
TG 0.700 CausalMutation CLINVAR

dbSNP: rs76157638
rs76157638
ABCA4
G 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs768278935
rs768278935
ABCA4
T 0.700 GeneticVariation CLINVAR

dbSNP: rs886044750
rs886044750
ABCA4
T 0.700 CausalMutation CLINVAR

dbSNP: rs1800553
rs1800553
ABCA4
0.010 GeneticVariation BEFREE Homozygosity for a novel complex allele G1961E/L857P causes a childhood-onset cone-rod dystrophy rather than the young-adult-onset macular dystrophy that is associated with G1961E alone. 31318848

2019
dbSNP: rs281865404
rs281865404
ABCA4
0.010 GeneticVariation BEFREE We found a new pathologic ATP-binding cassette transporter (ABCA4) splice-site mutation, c.3523-2A>T and the previously reported c.5327C>T (p.P1776L) missense mutation in the arCRD patients. 17893657

2007
dbSNP: rs768435443
rs768435443
ABCA4
0.010 GeneticVariation BEFREE Homozygosity for a novel complex allele G1961E/L857P causes a childhood-onset cone-rod dystrophy rather than the young-adult-onset macular dystrophy that is associated with G1961E alone. 31318848

2019
dbSNP: rs137853041
rs137853041
ADAM9
T 0.700 CausalMutation CLINVAR

dbSNP: rs786205086
rs786205086
ADAM9
G 0.700 CausalMutation CLINVAR

dbSNP: rs150115958
rs150115958
CABP4
T 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs1557110499
rs1557110499
CACNA1F
C 0.700 CausalMutation CLINVAR

dbSNP: rs886042153
rs886042153
CEP290
A 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs1057517694
rs1057517694
CEP78
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057517695
rs1057517695
CEP78
C 0.700 CausalMutation CLINVAR

dbSNP: rs121909398
rs121909398
CERKL
A 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs62625014
rs62625014
CNGA1 ; NIPAL1 ; LOC101927157
A 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs147118493
rs147118493
CNGA3
A 0.700 CausalMutation CLINVAR

dbSNP: rs397515360
rs397515360
CNGB3
A 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs104894671
rs104894671
CRX
0.010 GeneticVariation BEFREE Two point mutations of Crx, R41W and E80A, that cause cone-rod dystrophy in humans and lie within the homeodomain but outside the NLS did not disrupt the nuclear localization of Crx protein, but a R90W mutation of Crx that causes human Leber congenital amaurosis (LCA) and resides within the NLS resulted in the fusion protein localized in both nuclei and cytoplasm in majority (51% to 69%) of the transfected cells. 10967037

2000
dbSNP: rs104894672
rs104894672
CRX
0.010 GeneticVariation BEFREE A heterozygous Arg41Trp mutation in the CRX gene can produce cone-rod dystrophy in Japanese patients. 12819982

2003
dbSNP: rs104894673
rs104894673
CRX
0.010 GeneticVariation BEFREE R90W mice carry a substitution mutation in the CRX homeodomain, Arg90Trp, which is associated with dominant mild late-onset CoRD and recessive LCA. 24516401

2014
dbSNP: rs61748436
rs61748436
CRX
0.010 GeneticVariation BEFREE The Arg41Gln was associated with a late-onset, slowly progressing mild form of cone-rod dystrophy with cone loss but preserved rod and cone sensitivity until later in life. 10916183

2000
dbSNP: rs61748459
rs61748459
CRX
0.010 GeneticVariation BEFREE As an example, we discover an unannotated Tf_Otx Pfam domain on the cone rod homeobox protein, which suggests a possible mechanism for how the V242M mutation on this protein causes cone-rod dystrophy. 12668763

2003