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rs397518483

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397518483(C;T)
Make rs397518483(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position25596428
GeneRARB
is asnp
is mentioned by
dbSNPrs397518483
ebirs397518483
HLIrs397518483
Exacrs397518483
Varsomers397518483
Maprs397518483
PheGenIrs397518483
hapmaprs397518483
1000 genomesrs397518483
hgdprs397518483
ensemblrs397518483
gopubmedrs397518483
geneviewrs397518483
scholarrs397518483
googlers397518483
pharmgkbrs397518483
gwascentralrs397518483
openSNPrs397518483
23andMers397518483
23andMe allrs397518483
SNP Nexus

SNPshotrs397518483
SNPdbers397518483
MSV3drs397518483
GWAS Ctlgrs397518483
Max Magnitude0
ClinVar
Risk rs397518483(A,T;A,T)
Alt rs397518483(A,T;A,T)
Reference rs397518483(C;C)
Significance Pathogenic
Disease Microphthalmia
Variation info
Gene RARB
CLNDBN Microphthalmia, syndromic 12
Reversed 0
HGVS NC_000003.11:g.25637919C>A; NC_000003.11:g.25637919C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000074413.24, RCV000074412.25,