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rs398122915

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TC;TC) 0 common in clinvar
Make rs398122915(AA;AA)
Make rs398122915(AA;TC)
ReferenceGRCh38 38.1/141
Chromosome3
Position181712503
GeneSOX2, SOX2-OT
is asnp
is mentioned by
dbSNPrs398122915
ebirs398122915
HLIrs398122915
Exacrs398122915
Varsomers398122915
Maprs398122915
PheGenIrs398122915
hapmaprs398122915
1000 genomesrs398122915
hgdprs398122915
ensemblrs398122915
gopubmedrs398122915
geneviewrs398122915
scholarrs398122915
googlers398122915
pharmgkbrs398122915
gwascentralrs398122915
openSNPrs398122915
23andMers398122915
23andMe allrs398122915
SNP Nexus

SNPshotrs398122915
SNPdbers398122915
MSV3drs398122915
GWAS Ctlgrs398122915
Max Magnitude0
ClinVar
Risk rs398122915(AA;AA)
Alt rs398122915(AA;AA)
Reference rs398122915(TC;TC)
Significance Pathogenic
Disease Microphthalmia syndromic 3
Variation info
Gene SOX2-OT SOX2
CLNDBN Microphthalmia syndromic 3
Reversed 0
HGVS NC_000003.11:g.181430291_181430292delTCinsAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000033025.22,