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rs398122803

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs398122803(-;-)
Make rs398122803(-;GG)
Make rs398122803(GG;GG)
ReferenceGRCh38 38.1/141
Chromosome3
Position181712419
GeneSOX2, SOX2-OT
is asnp
is mentioned by
dbSNPrs398122803
ebirs398122803
HLIrs398122803
Exacrs398122803
Varsomers398122803
Maprs398122803
PheGenIrs398122803
hapmaprs398122803
1000 genomesrs398122803
hgdprs398122803
ensemblrs398122803
gopubmedrs398122803
geneviewrs398122803
scholarrs398122803
googlers398122803
pharmgkbrs398122803
gwascentralrs398122803
openSNPrs398122803
23andMers398122803
23andMe allrs398122803
SNP Nexus

SNPshotrs398122803
SNPdbers398122803
MSV3drs398122803
GWAS Ctlgrs398122803
Max Magnitude0
ClinVar
Risk rs398122803(GG;GG)
Alt rs398122803(GG;GG)
Reference rs398122803(;)
Significance Pathogenic
Disease Microphthalmia syndromic 3
Variation info
Gene SOX2-OT SOX2
CLNDBN Microphthalmia syndromic 3
Reversed 0
HGVS NC_000003.11:g.181430206_181430207dupGG
CLNSRC OMIM Allelic Variant
CLNACC RCV000022771.21,