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rs104893799

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893799(C;T)
Make rs104893799(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position181712889
GeneSOX2, SOX2-OT
is asnp
is mentioned by
dbSNPrs104893799
ebirs104893799
HLIrs104893799
Exacrs104893799
Varsomers104893799
Maprs104893799
PheGenIrs104893799
hapmaprs104893799
1000 genomesrs104893799
hgdprs104893799
ensemblrs104893799
gopubmedrs104893799
geneviewrs104893799
scholarrs104893799
googlers104893799
pharmgkbrs104893799
gwascentralrs104893799
openSNPrs104893799
23andMers104893799
23andMe allrs104893799
SNP Nexus

SNPshotrs104893799
SNPdbers104893799
MSV3drs104893799
GWAS Ctlgrs104893799
Max Magnitude0
OMIM184429
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104893799(T;T)
Alt rs104893799(T;T)
Reference rs104893799(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.181430677C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013662.23,