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rs724160006

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs724160006(C;T)
Make rs724160006(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position189995367
GeneP3H2
is asnp
is mentioned by
dbSNPrs724160006
ebirs724160006
HLIrs724160006
Exacrs724160006
Varsomers724160006
Maprs724160006
PheGenIrs724160006
hapmaprs724160006
1000 genomesrs724160006
hgdprs724160006
ensemblrs724160006
gopubmedrs724160006
geneviewrs724160006
scholarrs724160006
googlers724160006
pharmgkbrs724160006
gwascentralrs724160006
openSNPrs724160006
23andMers724160006
23andMe allrs724160006
SNP Nexus

SNPshotrs724160006
SNPdbers724160006
MSV3drs724160006
GWAS Ctlgrs724160006
Max Magnitude0
ClinVar
Risk rs724160006(T;T)
Alt rs724160006(T;T)
Reference rs724160006(C;C)
Significance Pathogenic
Disease Myopia
Variation info
Gene P3H2
CLNDBN Myopia, high, with cataract and vitreoretinal degeneration
Reversed 1
HGVS NC_000003.11:g.189713156G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000149825.3,