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rs876657690

From SNPedia

Orientationminus
Geno Mag Summary
(GCCGTACGGCA;GCCGTACGGCA) 0 common in clinvar
Make rs876657690(-;-)
Make rs876657690(-;GCCGTACGGCA)
ReferenceGRCh38.p2 38.2/147
Chromosome8
Position71321746
GeneEYA1
is asnp
is mentioned by
dbSNPrs876657690
ClinGenrs876657690
ebirs876657690
HLIrs876657690
Exacrs876657690
Varsomers876657690
Maprs876657690
PheGenIrs876657690
hapmaprs876657690
1000 genomesrs876657690
hgdprs876657690
ensemblrs876657690
gopubmedrs876657690
geneviewrs876657690
scholarrs876657690
googlers876657690
pharmgkbrs876657690
gwascentralrs876657690
openSNPrs876657690
23andMers876657690
23andMe allrs876657690
SNP Nexus

SNPshotrs876657690
SNPdbers876657690
MSV3drs876657690
GWAS Ctlgrs876657690
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs876657690(GCCGTACGGCA;GCCGTACGGCA)
Significance Pathogenic
Disease Melnick-Fraser syndrome
Variation info
Gene EYA1
CLNDBN Melnick-Fraser syndrome
Reversed 1
HGVS NC_000008.10:g.72233981_72233991delTGCCGTACGGC
CLNSRC
CLNACC RCV000215585.1,