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rs397517919

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs397517919(-;-)
Make rs397517919(-;T)
Make rs397517919(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position71211156
GeneEYA1
is asnp
is mentioned by
dbSNPrs397517919
ebirs397517919
HLIrs397517919
Exacrs397517919
Varsomers397517919
Maprs397517919
PheGenIrs397517919
hapmaprs397517919
1000 genomesrs397517919
hgdprs397517919
ensemblrs397517919
gopubmedrs397517919
geneviewrs397517919
scholarrs397517919
googlers397517919
pharmgkbrs397517919
gwascentralrs397517919
openSNPrs397517919
23andMers397517919
23andMe allrs397517919
SNP Nexus

SNPshotrs397517919
SNPdbers397517919
MSV3drs397517919
GWAS Ctlgrs397517919
Max Magnitude0
ClinVar
Risk rs397517919(T;T)
Alt rs397517919(T;T)
Reference rs397517919(;)
Significance Pathogenic
Disease Melnick-Fraser syndrome
Variation info
Gene EYA1
CLNDBN Melnick-Fraser syndrome
Reversed 1
HGVS NC_000008.10:g.72123391_72123392insA
CLNSRC ClinVar
CLNACC RCV000041390.2,