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rs397517918

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397517918(A;A)
Make rs397517918(A;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position71215405
GeneEYA1
is asnp
is mentioned by
dbSNPrs397517918
ebirs397517918
HLIrs397517918
Exacrs397517918
Varsomers397517918
Maprs397517918
PheGenIrs397517918
hapmaprs397517918
1000 genomesrs397517918
hgdprs397517918
ensemblrs397517918
gopubmedrs397517918
geneviewrs397517918
scholarrs397517918
googlers397517918
pharmgkbrs397517918
gwascentralrs397517918
openSNPrs397517918
23andMers397517918
23andMe allrs397517918
SNP Nexus

SNPshotrs397517918
SNPdbers397517918
MSV3drs397517918
GWAS Ctlgrs397517918
Max Magnitude0
ClinVar
Risk rs397517918(A;A)
Alt rs397517918(A;A)
Reference rs397517918(T;T)
Significance Probable-Pathogenic
Disease Melnick-Fraser syndrome
Variation info
Gene EYA1
CLNDBN Melnick-Fraser syndrome
Reversed 1
HGVS NC_000008.10:g.72127640A>T
CLNSRC ClinVar
CLNACC RCV000041389.2,