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rs786205879

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786205879(C;G)
Make rs786205879(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position56802192
GeneOTX2
is asnp
is mentioned by
dbSNPrs786205879
ebirs786205879
HLIrs786205879
Exacrs786205879
Varsomers786205879
Maprs786205879
PheGenIrs786205879
hapmaprs786205879
1000 genomesrs786205879
hgdprs786205879
ensemblrs786205879
gopubmedrs786205879
geneviewrs786205879
scholarrs786205879
googlers786205879
pharmgkbrs786205879
gwascentralrs786205879
openSNPrs786205879
23andMers786205879
23andMe allrs786205879
SNP Nexus

SNPshotrs786205879
SNPdbers786205879
MSV3drs786205879
GWAS Ctlgrs786205879
Max Magnitude0
ClinVar
Risk rs786205879(G;G)
Alt rs786205879(G;G)
Reference rs786205879(C;C)
Significance Pathogenic
Disease Microphthalmia syndromic 5
Variation info
Gene OTX2
CLNDBN Microphthalmia syndromic 5
Reversed 1
HGVS NC_000014.8:g.57268910G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000022925.3,