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rs104893804

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893804(C;T)
Make rs104893804(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position181712523
GeneSOX2, SOX2-OT
is asnp
is mentioned by
dbSNPrs104893804
ebirs104893804
HLIrs104893804
Exacrs104893804
Varsomers104893804
Maprs104893804
PheGenIrs104893804
hapmaprs104893804
1000 genomesrs104893804
hgdprs104893804
ensemblrs104893804
gopubmedrs104893804
geneviewrs104893804
scholarrs104893804
googlers104893804
pharmgkbrs104893804
gwascentralrs104893804
openSNPrs104893804
23andMers104893804
23andMe allrs104893804
SNP Nexus

SNPshotrs104893804
SNPdbers104893804
MSV3drs104893804
GWAS Ctlgrs104893804
Max Magnitude0
OMIM184429
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104893804(T;T)
Alt rs104893804(T;T)
Reference rs104893804(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.181430311C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013668.22,