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rs786205224

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786205224(A;A)
Make rs786205224(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position56804202
GeneOTX2
is asnp
is mentioned by
dbSNPrs786205224
ebirs786205224
HLIrs786205224
Exacrs786205224
Varsomers786205224
Maprs786205224
PheGenIrs786205224
hapmaprs786205224
1000 genomesrs786205224
hgdprs786205224
ensemblrs786205224
gopubmedrs786205224
geneviewrs786205224
scholarrs786205224
googlers786205224
pharmgkbrs786205224
gwascentralrs786205224
openSNPrs786205224
23andMers786205224
23andMe allrs786205224
SNP Nexus

SNPshotrs786205224
SNPdbers786205224
MSV3drs786205224
GWAS Ctlgrs786205224
Max Magnitude0
ClinVar
Risk rs786205224(A;A)
Alt rs786205224(A;A)
Reference rs786205224(G;G)
Significance Pathogenic
Disease Microphthalmia syndromic 5
Variation info
Gene OTX2
CLNDBN Microphthalmia syndromic 5
Reversed 1
HGVS NC_000014.8:g.57270920C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000170472.3,