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rs121909198

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909198(A;A)
Make rs121909198(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position71244656
GeneEYA1
is asnp
is mentioned by
dbSNPrs121909198
dbSNP (classic)rs121909198
ClinGenrs121909198
ebirs121909198
HLIrs121909198
Exacrs121909198
Gnomadrs121909198
Varsomers121909198
LitVarrs121909198
Maprs121909198
PheGenIrs121909198
Biobankrs121909198
1000 genomesrs121909198
hgdprs121909198
ensemblrs121909198
geneviewrs121909198
scholarrs121909198
googlers121909198
pharmgkbrs121909198
gwascentralrs121909198
openSNPrs121909198
23andMers121909198
SNPshotrs121909198
SNPdbers121909198
MSV3drs121909198
GWAS Ctlgrs121909198
Max Magnitude0
OMIM601653
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121909198(A;A)
Alt rs121909198(A;A)
Reference Rs121909198(G;G)
Significance Pathogenic
Disease Anterior segment anomalies
Variation info
Gene EYA1
CLNDBN Anterior segment anomalies
Reversed 1
HGVS NC_000008.10:g.72156891C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008399.3,