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rs397517917

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397517917(G;T)
Make rs397517917(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position71215729
GeneEYA1
is asnp
is mentioned by
dbSNPrs397517917
ebirs397517917
HLIrs397517917
Exacrs397517917
Varsomers397517917
Maprs397517917
PheGenIrs397517917
hapmaprs397517917
1000 genomesrs397517917
hgdprs397517917
ensemblrs397517917
gopubmedrs397517917
geneviewrs397517917
scholarrs397517917
googlers397517917
pharmgkbrs397517917
gwascentralrs397517917
openSNPrs397517917
23andMers397517917
23andMe allrs397517917
SNP Nexus

SNPshotrs397517917
SNPdbers397517917
MSV3drs397517917
GWAS Ctlgrs397517917
Max Magnitude0
ClinVar
Risk rs397517917(T;T)
Alt rs397517917(T;T)
Reference rs397517917(G;G)
Significance Pathogenic
Disease Melnick-Fraser syndrome
Variation info
Gene EYA1
CLNDBN Melnick-Fraser syndrome
Reversed 1
HGVS NC_000008.10:g.72127964C>A
CLNSRC ClinVar
CLNACC RCV000041388.2,