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rs397517920

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397517920(C;C)
Make rs397517920(C;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position71199371
GeneEYA1
is asnp
is mentioned by
dbSNPrs397517920
ebirs397517920
HLIrs397517920
Exacrs397517920
Varsomers397517920
Maprs397517920
PheGenIrs397517920
hapmaprs397517920
1000 genomesrs397517920
hgdprs397517920
ensemblrs397517920
gopubmedrs397517920
geneviewrs397517920
scholarrs397517920
googlers397517920
pharmgkbrs397517920
gwascentralrs397517920
openSNPrs397517920
23andMers397517920
23andMe allrs397517920
SNP Nexus

SNPshotrs397517920
SNPdbers397517920
MSV3drs397517920
GWAS Ctlgrs397517920
Max Magnitude0
ClinVar
Risk rs397517920(C;C)
Alt rs397517920(C;C)
Reference rs397517920(T;T)
Significance Probable-Pathogenic
Disease Melnick-Fraser syndrome
Variation info
Gene EYA1
CLNDBN Melnick-Fraser syndrome
Reversed 1
HGVS NC_000008.10:g.72111606A>G
CLNSRC ClinVar
CLNACC RCV000041392.2,