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rs587776776

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587776776(-;-)
Make rs587776776(-;C)
ReferenceGRCh38 38.1/142
Chromosome3
Position181712911
GeneSOX2, SOX2-OT
is asnp
is mentioned by
dbSNPrs587776776
ebirs587776776
HLIrs587776776
Exacrs587776776
Varsomers587776776
Maprs587776776
PheGenIrs587776776
hapmaprs587776776
1000 genomesrs587776776
hgdprs587776776
ensemblrs587776776
gopubmedrs587776776
geneviewrs587776776
scholarrs587776776
googlers587776776
pharmgkbrs587776776
gwascentralrs587776776
openSNPrs587776776
23andMers587776776
23andMe allrs587776776
SNP Nexus

SNPshotrs587776776
SNPdbers587776776
MSV3drs587776776
GWAS Ctlgrs587776776
Max Magnitude0
ClinVar
Risk rs587776776(;)
Alt rs587776776(;)
Reference rs587776776(C;C)
Significance Pathogenic
Disease Microphthalmia syndromic 3
Variation info
Gene SOX2-OT SOX2
CLNDBN Microphthalmia syndromic 3
Reversed 0
HGVS NC_000003.11:g.181430699delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000013676.25,