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rs121909200

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121909200(C;C)
Make rs121909200(C;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position71215630
GeneEYA1
is asnp
is mentioned by
dbSNPrs121909200
ebirs121909200
HLIrs121909200
Exacrs121909200
Varsomers121909200
Maprs121909200
PheGenIrs121909200
hapmaprs121909200
1000 genomesrs121909200
hgdprs121909200
ensemblrs121909200
gopubmedrs121909200
geneviewrs121909200
scholarrs121909200
googlers121909200
pharmgkbrs121909200
gwascentralrs121909200
openSNPrs121909200
23andMers121909200
23andMe allrs121909200
SNP Nexus

SNPshotrs121909200
SNPdbers121909200
MSV3drs121909200
GWAS Ctlgrs121909200
Max Magnitude0
OMIM601653
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121909200(C;C)
Alt rs121909200(C;C)
Reference rs121909200(T;T)
Significance Pathogenic
Disease Melnick-Fraser syndrome
Variation info
Gene EYA1
CLNDBN Melnick-Fraser syndrome
Reversed 1
HGVS NC_000008.10:g.72127865A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008402.3,