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rs104893800

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893800(G;T)
Make rs104893800(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position181712637
GeneSOX2, SOX2-OT
is asnp
is mentioned by
dbSNPrs104893800
ebirs104893800
HLIrs104893800
Exacrs104893800
Varsomers104893800
Maprs104893800
PheGenIrs104893800
hapmaprs104893800
1000 genomesrs104893800
hgdprs104893800
ensemblrs104893800
gopubmedrs104893800
geneviewrs104893800
scholarrs104893800
googlers104893800
pharmgkbrs104893800
gwascentralrs104893800
openSNPrs104893800
23andMers104893800
23andMe allrs104893800
SNP Nexus

SNPshotrs104893800
SNPdbers104893800
MSV3drs104893800
GWAS Ctlgrs104893800
Max Magnitude0
OMIM184429
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104893800(T;T)
Alt rs104893800(T;T)
Reference rs104893800(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.181430425G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013663.20,