Rs104894464

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Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894464(C;G)
Make rs104894464(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position56802340
GeneOTX2
is asnp
is mentioned by
dbSNPrs104894464
PheGenIrs104894464
nextbiors104894464
hapmaprs104894464
1000 genomesrs104894464
hgdprs104894464
ensemblrs104894464
gopubmedrs104894464
geneviewrs104894464
scholarrs104894464
googlers104894464
pharmgkbrs104894464
gwascentralrs104894464
openSNPrs104894464
23andMers104894464
23andMe allrs104894464
SNP Nexus

SNPshotrs104894464
SNPdbers104894464
MSV3drs104894464
Max Magnitude0
OMIM600037
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894464(G;G)
Alt rs104894464(G;G)
Reference rs104894464(C;C)
Significance Pathogenic
Disease Microphthalmia syndromic 5
Variation info
Gene OTX2
CLNDBN Microphthalmia syndromic 5
Reversed 1
HGVS NC_000014.8:g.57269058G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010124.1,