Have questions? Visit https://www.reddit.com/r/SNPedia

rs724159988

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs724159988(G;T)
Make rs724159988(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position189973934
GeneP3H2
is asnp
is mentioned by
dbSNPrs724159988
ebirs724159988
HLIrs724159988
Exacrs724159988
Varsomers724159988
Maprs724159988
PheGenIrs724159988
hapmaprs724159988
1000 genomesrs724159988
hgdprs724159988
ensemblrs724159988
gopubmedrs724159988
geneviewrs724159988
scholarrs724159988
googlers724159988
pharmgkbrs724159988
gwascentralrs724159988
openSNPrs724159988
23andMers724159988
23andMe allrs724159988
SNP Nexus

SNPshotrs724159988
SNPdbers724159988
MSV3drs724159988
GWAS Ctlgrs724159988
Max Magnitude0
ClinVar
Risk rs724159988(T;T)
Alt rs724159988(T;T)
Reference rs724159988(G;G)
Significance Pathogenic
Disease Myopia
Variation info
Gene P3H2
CLNDBN Myopia, high, with cataract and vitreoretinal degeneration
Reversed 1
HGVS NC_000003.11:g.189691723C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023807.3,