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rs398122916

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398122916(-;-)
Make rs398122916(-;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position181713197
GeneSOX2, SOX2-OT
is asnp
is mentioned by
dbSNPrs398122916
ebirs398122916
HLIrs398122916
Exacrs398122916
Varsomers398122916
Maprs398122916
PheGenIrs398122916
hapmaprs398122916
1000 genomesrs398122916
hgdprs398122916
ensemblrs398122916
gopubmedrs398122916
geneviewrs398122916
scholarrs398122916
googlers398122916
pharmgkbrs398122916
gwascentralrs398122916
openSNPrs398122916
23andMers398122916
23andMe allrs398122916
SNP Nexus

SNPshotrs398122916
SNPdbers398122916
MSV3drs398122916
GWAS Ctlgrs398122916
Max Magnitude0
ClinVar
Risk rs398122916(;)
Alt rs398122916(;)
Reference rs398122916(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.181430985delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000033026.20,