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rs121909195

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909195(C;T)
Make rs121909195(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position71271802
GeneEYA1
is asnp
is mentioned by
dbSNPrs121909195
ebirs121909195
HLIrs121909195
Exacrs121909195
Varsomers121909195
Maprs121909195
PheGenIrs121909195
hapmaprs121909195
1000 genomesrs121909195
hgdprs121909195
ensemblrs121909195
gopubmedrs121909195
geneviewrs121909195
scholarrs121909195
googlers121909195
pharmgkbrs121909195
gwascentralrs121909195
openSNPrs121909195
23andMers121909195
23andMe allrs121909195
SNP Nexus

SNPshotrs121909195
SNPdbers121909195
MSV3drs121909195
GWAS Ctlgrs121909195
Max Magnitude0
OMIM601653
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121909195(G,T;G,T)
Alt rs121909195(G,T;G,T)
Reference rs121909195(C;C)
Significance Pathogenic
Disease Melnick-Fraser syndrome
Variation info
Gene EYA1
CLNDBN Melnick-Fraser syndrome
Reversed 1
HGVS NC_000008.10:g.72184037G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008391.5,