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rs397517916

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397517916(-;-)
Make rs397517916(-;A)
ReferenceGRCh38 38.1/141
Chromosome8
Position71244621
GeneEYA1
is asnp
is mentioned by
dbSNPrs397517916
ebirs397517916
HLIrs397517916
Exacrs397517916
Varsomers397517916
Maprs397517916
PheGenIrs397517916
hapmaprs397517916
1000 genomesrs397517916
hgdprs397517916
ensemblrs397517916
gopubmedrs397517916
geneviewrs397517916
scholarrs397517916
googlers397517916
pharmgkbrs397517916
gwascentralrs397517916
openSNPrs397517916
23andMers397517916
23andMe allrs397517916
SNP Nexus

SNPshotrs397517916
SNPdbers397517916
MSV3drs397517916
GWAS Ctlgrs397517916
Max Magnitude0
ClinVar
Risk rs397517916(;)
Alt rs397517916(;)
Reference rs397517916(A;A)
Significance Pathogenic
Disease Melnick-Fraser syndrome
Variation info
Gene EYA1
CLNDBN Melnick-Fraser syndrome
Reversed 1
HGVS NC_000008.10:g.72156856delT
CLNSRC ClinVar
CLNACC RCV000041385.2,