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rs121909201

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121909201(G;G)
Make rs121909201(G;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position71215470
GeneEYA1
is asnp
is mentioned by
dbSNPrs121909201
ebirs121909201
HLIrs121909201
Exacrs121909201
Varsomers121909201
Maprs121909201
PheGenIrs121909201
hapmaprs121909201
1000 genomesrs121909201
hgdprs121909201
ensemblrs121909201
gopubmedrs121909201
geneviewrs121909201
scholarrs121909201
googlers121909201
pharmgkbrs121909201
gwascentralrs121909201
openSNPrs121909201
23andMers121909201
23andMe allrs121909201
SNP Nexus

SNPshotrs121909201
SNPdbers121909201
MSV3drs121909201
GWAS Ctlgrs121909201
Max Magnitude0
OMIM601653
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121909201(G;G)
Alt rs121909201(G;G)
Reference rs121909201(T;T)
Significance Pathogenic
Disease Melnick-Fraser syndrome
Variation info
Gene EYA1
CLNDBN Melnick-Fraser syndrome
Reversed 1
HGVS NC_000008.10:g.72127705A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000008403.3,