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rs104893801

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893801(A;A)
Make rs104893801(A;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position181712608
GeneSOX2, SOX2-OT
is asnp
is mentioned by
dbSNPrs104893801
ebirs104893801
HLIrs104893801
Exacrs104893801
Varsomers104893801
Maprs104893801
PheGenIrs104893801
hapmaprs104893801
1000 genomesrs104893801
hgdprs104893801
ensemblrs104893801
gopubmedrs104893801
geneviewrs104893801
scholarrs104893801
googlers104893801
pharmgkbrs104893801
gwascentralrs104893801
openSNPrs104893801
23andMers104893801
23andMe allrs104893801
SNP Nexus

SNPshotrs104893801
SNPdbers104893801
MSV3drs104893801
GWAS Ctlgrs104893801
Max Magnitude0
OMIM184429
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104893801(A;A)
Alt rs104893801(A;A)
Reference Rs104893801(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.181430396C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013664.21,