Macular Dystrophy
Ophthalmic
73 variants
25 genes
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Associated Genes (25)
RDH12
CRB1
CNGA3
CERKL
EFEMP1
TTC8
EYS
PRPH2
BEST1
CACNA1F
CDHR1
UNC119
CLEC3B
THRB
GUCA1A;GUCA1ANB-GUCA1A
GUCY2D
CNGA1
CDH3
COL18A1
ABCA4
CNGB3
ATF6
CRX
RPGR
RP2
Associated Variants (73)
RSID
Gene
Risk Allele
Odds Ratio
Evidence
RS140257538
RDH12
—
—
strong
RS1201356843
CRB1
—
—
strong
RS141386891
CNGA3
—
—
strong
RS1553515435
CERKL
—
—
strong
RS1553348960
EFEMP1
—
—
strong
RS140698625
TTC8
—
—
strong
RS778030177
EYS
—
—
strong
RS868349465
EYS
—
—
strong
RS1562140604
EYS
—
—
strong
RS1582764504
PRPH2
—
—
strong
RS1582764528
PRPH2
—
—
strong
RS1582780842
PRPH2
—
—
strong
RS1225032182
BEST1
—
—
strong
RS1553260321
CRB1
—
—
strong
RS1582759492
PRPH2
—
—
strong
RS199932603
CACNA1F
—
—
strong
RS1566847499
RDH12
—
—
strong
RS745871149
RDH12
—
—
strong
RS368383940
BEST1
—
—
strong
RS2140145599
RDH12
—
—
strong
RS1842216995
CDHR1
—
—
strong
RS764936506
UNC119
—
—
strong
RS2530665810
CLEC3B
—
—
strong
RS2474261231
THRB
—
—
strong
RS1446751435
CDHR1
—
—
strong
RS750636662
RDH12
—
—
strong
RS104893967
GUCA1A;GUCA1ANB-GUCA1A
—
—
strong
RS104893968
GUCA1A;GUCA1ANB-GUCA1A
—
—
strong
RS61750173
GUCY2D
—
—
strong
RS61755793
PRPH2
—
—
strong
RS62625014
CNGA1
—
—
strong
RS724159985
CDH3
—
—
strong
RS398122391
COL18A1
—
—
strong
RS1800728
ABCA4
—
—
strong
RS398124615
CRB1
—
—
strong
RS61755809
PRPH2
—
—
strong
RS61755810
PRPH2
—
—
strong
RS61755814
PRPH2
—
—
strong
RS61751392
ABCA4
—
—
strong
RS147346345
CDHR1
—
—
strong
RS1554604767
CNGB3
—
—
strong
RS749537392
ATF6
—
—
strong
RS778234759
ABCA4
—
—
strong
RS1553192682
ABCA4
—
—
strong
RS1553195472
ABCA4
—
—
strong
RS753657349
PRPH2
—
—
strong
RS139185976
PRPH2
—
—
strong
RS1555801963
CRX
—
—
strong
RS1555961220
RPGR
—
—
strong
RS1556313414
RP2
—
—
strong
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