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rs397514463

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514463(G;T)
Make rs397514463(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position56802043
GeneOTX2
is asnp
is mentioned by
dbSNPrs397514463
ebirs397514463
HLIrs397514463
Exacrs397514463
Varsomers397514463
Maprs397514463
PheGenIrs397514463
hapmaprs397514463
1000 genomesrs397514463
hgdprs397514463
ensemblrs397514463
gopubmedrs397514463
geneviewrs397514463
scholarrs397514463
googlers397514463
pharmgkbrs397514463
gwascentralrs397514463
openSNPrs397514463
23andMers397514463
23andMe allrs397514463
SNP Nexus

SNPshotrs397514463
SNPdbers397514463
MSV3drs397514463
GWAS Ctlgrs397514463
Max Magnitude0
ClinVar
Risk rs397514463(T;T)
Alt rs397514463(T;T)
Reference rs397514463(G;G)
Significance Pathogenic
Disease Microphthalmia syndromic 5
Variation info
Gene OTX2
CLNDBN Microphthalmia syndromic 5
Reversed 1
HGVS NC_000014.8:g.57268761C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022927.3,