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rs387906688

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906688(A;A)
Make rs387906688(A;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position181712605
GeneSOX2, SOX2-OT
is asnp
is mentioned by
dbSNPrs387906688
ebirs387906688
HLIrs387906688
Exacrs387906688
Varsomers387906688
Maprs387906688
PheGenIrs387906688
hapmaprs387906688
1000 genomesrs387906688
hgdprs387906688
ensemblrs387906688
gopubmedrs387906688
geneviewrs387906688
scholarrs387906688
googlers387906688
pharmgkbrs387906688
gwascentralrs387906688
openSNPrs387906688
23andMers387906688
23andMe allrs387906688
SNP Nexus

SNPshotrs387906688
SNPdbers387906688
MSV3drs387906688
GWAS Ctlgrs387906688
Max Magnitude0
ClinVar
Risk rs387906688(A;A)
Alt rs387906688(A;A)
Reference rs387906688(T;T)
Significance Pathogenic
Disease Microphthalmia syndromic 3
Variation info
Gene SOX2-OT SOX2
CLNDBN Microphthalmia syndromic 3
Reversed 0
HGVS NC_000003.11:g.181430393T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022772.20,