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rs3112831

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs3112831(A;G)
Make rs3112831(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position94078678
GeneABCA4
is asnp
is mentioned by
dbSNPrs3112831
ebirs3112831
HLIrs3112831
Exacrs3112831
Varsomers3112831
Maprs3112831
PheGenIrs3112831
hapmaprs3112831
1000 genomesrs3112831
hgdprs3112831
ensemblrs3112831
gopubmedrs3112831
geneviewrs3112831
scholarrs3112831
googlers3112831
pharmgkbrs3112831
gwascentralrs3112831
openSNPrs3112831
23andMers3112831
23andMe allrs3112831
SNP Nexus

SNPshotrs3112831
SNPdbers3112831
MSV3drs3112831
GWAS Ctlgrs3112831
GMAF0.247
Max Magnitude0
? (A;A) (A;G) (G;G) 28

[PMID 21106043] Genetic association study of age-related macular degeneration in the Spanish population


ClinVar
Risk rs3112831(G;G)
Alt rs3112831(G;G)
Reference rs3112831(A;A)
Significance Probable-non-pathogenic
Disease not provided not specified
Variation info
Gene ABCA4
CLNDBN not provided not specified
Reversed 1
HGVS NC_000001.10:g.94544234T>C; NC_000001.10:g.94544234T>G
CLNSRC ClinVar GeneDx Retina International
CLNACC RCV000085383.5, RCV000173675.1, RCV000085382.1,



[PMID 18523590OA-icon.png] Genetic and epigenetic factors at COL2A1 and ABCA4 influence clinical outcome in congenital toxoplasmosis.


[PMID 19430638OA-icon.png] Host genetic and epigenetic factors in toxoplasmosis.


GET Evidence
ABCA4-H423R
aa_change His423Arg
aa_change_short H423R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.258226
summary