Cone Dystrophy
Other
49 variants
23 genes
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Associated Genes (23)
ABCA4
CNGA3
CABP4
GUCY2D
NMNAT1
CERKL
ABHD12
GNAT2
PDE6C
BBS5
SAG
PRPH2
KCNV2
RPGRIP1
PITPNM3
WDR19
RAB28
RGR
RPGR
CRB1
SRD5A3
CDHR1
CFAP410
Associated Variants (49)
RSID
Gene
Risk Allele
Odds Ratio
Evidence
RS1660845802
ABCA4
—
—
strong
RS117522010
CNGA3
—
—
strong
RS531851447
CABP4
—
—
strong
RS952193754
GUCY2D
—
—
strong
RS1271498710
NMNAT1
—
—
strong
RS753994107
CERKL
—
—
strong
RS1568725951
ABHD12
—
—
strong
RS757147586
GNAT2
—
—
strong
RS1557918619
GNAT2
—
—
strong
RS1557767754
ABCA4
—
—
strong
RS1589693002
PDE6C
—
—
strong
RS1659954489
ABCA4
—
—
strong
RS1660447204
ABCA4
—
—
strong
RS1238632042
BBS5
—
—
strong
RS1484802068
SAG
—
—
strong
RS1692799480
CNGA3
—
—
strong
RS749853484
CNGA3
—
—
strong
RS1800113541
PRPH2
—
—
strong
RS138924201
KCNV2
—
—
strong
RS748084580
KCNV2
—
—
strong
RS1883036406
RPGRIP1
—
—
strong
RS1905007623
PITPNM3
—
—
strong
RS778000601
CNGA3
—
—
strong
RS775181779
WDR19
—
—
strong
RS2474592669
RAB28
—
—
strong
RS61749668
GUCY2D
—
—
strong
RS1800553
ABCA4
—
—
strong
RS104894187
RGR
—
—
strong
RS61750172
GUCY2D
—
—
strong
RS61750173
GUCY2D
—
—
strong
RS606231180
RPGR
—
—
strong
RS606231181
RPGR
—
—
strong
RS61755783
PRPH2
—
—
strong
RS62645748
CRB1
—
—
strong
RS140256288
KCNV2
—
—
strong
RS398124401
SRD5A3
—
—
strong
RS398124615
CRB1
—
—
strong
RS121909398
CERKL
—
—
strong
RS61748517
ABCA4
—
—
strong
RS61753046
ABCA4
—
—
strong
RS137853921
BBS5
—
—
strong
RS587777604
ABHD12
—
—
strong
RS113106943
ABCA4
—
—
strong
RS794727197
CDHR1
—
—
strong
RS886039300
ABCA4
—
—
strong
RS139027297
KCNV2
—
—
strong
RS146195955
CNGA3
—
—
strong
RS1057519200
RPGRIP1
—
—
strong
RS140451304
CFAP410
—
—
strong
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