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rs104893802

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104893802(C;C)
Make rs104893802(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position181712650
GeneSOX2, SOX2-OT
is asnp
is mentioned by
dbSNPrs104893802
ebirs104893802
HLIrs104893802
Exacrs104893802
Varsomers104893802
Maprs104893802
PheGenIrs104893802
hapmaprs104893802
1000 genomesrs104893802
hgdprs104893802
ensemblrs104893802
gopubmedrs104893802
geneviewrs104893802
scholarrs104893802
googlers104893802
pharmgkbrs104893802
gwascentralrs104893802
openSNPrs104893802
23andMers104893802
23andMe allrs104893802
SNP Nexus

SNPshotrs104893802
SNPdbers104893802
MSV3drs104893802
GWAS Ctlgrs104893802
Max Magnitude0
OMIM184429
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104893802(C;C)
Alt rs104893802(C;C)
Reference rs104893802(T;T)
Significance Pathogenic
Disease Microphthalmia syndromic 3
Variation info
Gene SOX2-OT SOX2
CLNDBN Microphthalmia syndromic 3
Reversed 0
HGVS NC_000003.11:g.181430438T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000013665.24,