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rs786205874

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786205874(-;-)
Make rs786205874(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position56805376
GeneOTX2
is asnp
is mentioned by
dbSNPrs786205874
ebirs786205874
HLIrs786205874
Exacrs786205874
Varsomers786205874
Maprs786205874
PheGenIrs786205874
hapmaprs786205874
1000 genomesrs786205874
hgdprs786205874
ensemblrs786205874
gopubmedrs786205874
geneviewrs786205874
scholarrs786205874
googlers786205874
pharmgkbrs786205874
gwascentralrs786205874
openSNPrs786205874
23andMers786205874
23andMe allrs786205874
SNP Nexus

SNPshotrs786205874
SNPdbers786205874
MSV3drs786205874
GWAS Ctlgrs786205874
Max Magnitude0
ClinVar
Risk rs786205874(;)
Alt rs786205874(;)
Reference rs786205874(C;C)
Significance Pathogenic
Disease Microphthalmia syndromic 5
Variation info
Gene OTX2
CLNDBN Microphthalmia syndromic 5
Reversed 1
HGVS NC_000014.8:g.57272094delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000010125.5,