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rs104893803

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893803(C;T)
Make rs104893803(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position181712823
GeneSOX2, SOX2-OT
is asnp
is mentioned by
dbSNPrs104893803
ebirs104893803
HLIrs104893803
Exacrs104893803
Varsomers104893803
Maprs104893803
PheGenIrs104893803
hapmaprs104893803
1000 genomesrs104893803
hgdprs104893803
ensemblrs104893803
gopubmedrs104893803
geneviewrs104893803
scholarrs104893803
googlers104893803
pharmgkbrs104893803
gwascentralrs104893803
openSNPrs104893803
23andMers104893803
23andMe allrs104893803
SNP Nexus

SNPshotrs104893803
SNPdbers104893803
MSV3drs104893803
GWAS Ctlgrs104893803
Max Magnitude0
OMIM184429
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104893803(G,T;G,T)
Alt rs104893803(G,T;G,T)
Reference rs104893803(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.181430611C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013666.23,