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rs104893806

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104893806(G;G)
Make rs104893806(G;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position181712498
GeneSOX2, SOX2-OT
is asnp
is mentioned by
dbSNPrs104893806
ebirs104893806
HLIrs104893806
Exacrs104893806
Varsomers104893806
Maprs104893806
PheGenIrs104893806
hapmaprs104893806
1000 genomesrs104893806
hgdprs104893806
ensemblrs104893806
gopubmedrs104893806
geneviewrs104893806
scholarrs104893806
googlers104893806
pharmgkbrs104893806
gwascentralrs104893806
openSNPrs104893806
23andMers104893806
23andMe allrs104893806
SNP Nexus

SNPshotrs104893806
SNPdbers104893806
MSV3drs104893806
GWAS Ctlgrs104893806
Max Magnitude0
OMIM184429
Desc
Variant0009
Relatedalso
ClinVar
Risk rs104893806(G;G)
Alt rs104893806(G;G)
Reference rs104893806(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.181430286T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013670.24,