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rs34745240

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common on affy axiom data
Make rs34745240(A;A)
Make rs34745240(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position186201178
GeneCYP4V2
is asnp
is mentioned by
dbSNPrs34745240
ebirs34745240
HLIrs34745240
Exacrs34745240
Varsomers34745240
Maprs34745240
PheGenIrs34745240
hapmaprs34745240
1000 genomesrs34745240
hgdprs34745240
ensemblrs34745240
gopubmedrs34745240
geneviewrs34745240
scholarrs34745240
googlers34745240
pharmgkbrs34745240
gwascentralrs34745240
openSNPrs34745240
23andMers34745240
23andMe allrs34745240
SNP Nexus

SNPshotrs34745240
SNPdbers34745240
MSV3drs34745240
GWAS Ctlgrs34745240
GMAF0.02984
Max Magnitude0
Venter snp
Source plos
Gene CYP4V2
allele A
frequency
sift TOLERATED
HuRef 1103654656504
Disease Association Defects in CYP4V2 are a cause of Bietti crystalline corneoretinal dystrophy (BCD) (MIM:210370). BCD is an autosomal recessive retinal dystrophy characterized by multiple glistening intraretinal crystals scattered over the fundus, a characteristic degeneration of the retina, and sclerosis of the choroidal vessels, ultimately resulting in progressive night blindness and constriction of the visual field. Most cases have similar crystals at the corneoscleral limbus. Clinically, BCD is progressive. Patients develop decreased vision, nyctalopia, and paracentral scotomata between the 2nd and 4th decade of life. Later, patients develop peripheral visual field loss and marked visual impairment, usually progressing to legal blindness by the 5th or 6th decade of life.



GET Evidence
CYP4V2-E275K
aa_change Glu275Lys
aa_change_short E275K
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.038483
summary