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rs786205884

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786205884(-;-)
Make rs786205884(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position56802313
GeneOTX2
is asnp
is mentioned by
dbSNPrs786205884
ebirs786205884
HLIrs786205884
Exacrs786205884
Varsomers786205884
Maprs786205884
PheGenIrs786205884
hapmaprs786205884
1000 genomesrs786205884
hgdprs786205884
ensemblrs786205884
gopubmedrs786205884
geneviewrs786205884
scholarrs786205884
googlers786205884
pharmgkbrs786205884
gwascentralrs786205884
openSNPrs786205884
23andMers786205884
23andMe allrs786205884
SNP Nexus

SNPshotrs786205884
SNPdbers786205884
MSV3drs786205884
GWAS Ctlgrs786205884
Max Magnitude0
ClinVar
Risk rs786205884(;)
Alt rs786205884(;)
Reference rs786205884(C;C)
Significance Pathogenic
Disease Microphthalmia syndromic 5
Variation info
Gene OTX2
CLNDBN Microphthalmia syndromic 5
Reversed 1
HGVS NC_000014.8:g.57269031delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000170470.4,