Retinal Dystrophy
Ophthalmic
4,631 variants
23 genes
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Associated Genes (23)
WFS1
RDH12
IQCB1
PITPNM3
ARL6
C1QTNF5
CYP4V2
RP1L1
MFN2
USH2A
MYO7A
KLHL7
FAM161A
PCARE
OAT
INPP5E
EYS
LCA5
BBS12
HGSNAT
BBS10
CEP290
SPATA7
Associated Variants (4,631)
RSID
Gene
Risk Allele
Odds Ratio
Evidence
RS757027394
WFS1
—
—
exploratory
RS202126574
RDH12
—
—
strong
RS750962965
IQCB1
—
—
strong
RS76024428
PITPNM3
—
—
strong
RS104893678
ARL6
—
—
strong
RS104893680
ARL6
—
—
strong
RS28940313
RDH12
—
—
strong
RS386834261
RDH12
—
—
strong
RS28940314
RDH12
—
—
strong
RS104894471
RDH12
—
—
strong
RS104894474
RDH12
—
—
strong
RS104894475
RDH12
—
—
strong
RS28940315
RDH12
—
—
strong
RS121434337
RDH12
—
—
strong
RS121918244
IQCB1
—
—
strong
RS111033578
C1QTNF5
—
—
strong
RS119103283
CYP4V2
—
—
strong
RS199476183
CYP4V2
—
—
strong
RS267607017
RP1L1
—
—
strong
RS138382758
MFN2
—
—
strong
RS111033367
USH2A
—
—
strong
RS121912599
USH2A
—
—
strong
RS80338902
USH2A
—
—
strong
RS111033364
USH2A
—
—
strong
RS1954474030
MYO7A
—
—
strong
RS137853114
KLHL7
—
—
strong
RS200691042
FAM161A
—
—
strong
RS397704718
FAM161A
—
—
strong
RS202193201
FAM161A
—
—
strong
RS794728002
PCARE
—
—
strong
RS121965036
OAT
—
—
strong
RS121965045
OAT
—
—
strong
RS121965057
OAT
—
—
strong
RS121918129
INPP5E
—
—
strong
RS137853190
EYS
—
—
strong
RS386834252
LCA5
—
—
strong
RS121918165
LCA5
—
—
strong
RS137853113
KLHL7
—
—
strong
RS267606794
FAM161A
—
—
strong
RS121918328
BBS12
—
—
strong
RS587777803
BBS12
—
—
strong
RS121908282
HGSNAT
—
—
strong
RS121908285
HGSNAT
—
—
strong
RS549625604
BBS10
—
—
strong
RS137852837
BBS10
—
—
strong
RS137852832
CEP290
—
—
strong
RS281865192
CEP290
—
—
strong
RS137852834
CEP290
—
—
strong
RS137852835
CEP290
—
—
strong
RS75895925
SPATA7
—
—
strong
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