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rs104893805

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893805(C;C)
Make rs104893805(C;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position181712581
GeneSOX2, SOX2-OT
is asnp
is mentioned by
dbSNPrs104893805
ebirs104893805
HLIrs104893805
Exacrs104893805
Varsomers104893805
Maprs104893805
PheGenIrs104893805
hapmaprs104893805
1000 genomesrs104893805
hgdprs104893805
ensemblrs104893805
gopubmedrs104893805
geneviewrs104893805
scholarrs104893805
googlers104893805
pharmgkbrs104893805
gwascentralrs104893805
openSNPrs104893805
23andMers104893805
23andMe allrs104893805
SNP Nexus

SNPshotrs104893805
SNPdbers104893805
MSV3drs104893805
GWAS Ctlgrs104893805
Max Magnitude0
OMIM184429
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104893805(C;C)
Alt rs104893805(C;C)
Reference rs104893805(G;G)
Significance Pathogenic
Disease Microphthalmia syndromic 3
Variation info
Gene SOX2-OT SOX2
CLNDBN Microphthalmia syndromic 3
Reversed 0
HGVS NC_000003.11:g.181430369G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000013669.20,