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rs786205873

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs786205873(-;-)
Make rs786205873(-;GC)
Make rs786205873(GC;GC)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position56802140
GeneOTX2
is asnp
is mentioned by
dbSNPrs786205873
ebirs786205873
HLIrs786205873
Exacrs786205873
Varsomers786205873
Maprs786205873
PheGenIrs786205873
hapmaprs786205873
1000 genomesrs786205873
hgdprs786205873
ensemblrs786205873
gopubmedrs786205873
geneviewrs786205873
scholarrs786205873
googlers786205873
pharmgkbrs786205873
gwascentralrs786205873
openSNPrs786205873
23andMers786205873
23andMe allrs786205873
SNP Nexus

SNPshotrs786205873
SNPdbers786205873
MSV3drs786205873
GWAS Ctlgrs786205873
Max Magnitude0
ClinVar
Risk rs786205873(GC;GC)
Alt rs786205873(GC;GC)
Reference rs786205873(;)
Significance Pathogenic
Disease Microphthalmia syndromic 5
Variation info
Gene OTX2
CLNDBN Microphthalmia syndromic 5
Reversed 1
HGVS NC_000014.8:g.57268859_57268860dupGC
CLNSRC OMIM Allelic Variant
CLNACC RCV000010123.3,