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rs876657691

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs876657691(A;A)
Make rs876657691(A;C)
ReferenceGRCh38.p2 38.2/147
Chromosome8
Position71271828
GeneEYA1
is asnp
is mentioned by
dbSNPrs876657691
dbSNP (classic)rs876657691
ClinGenrs876657691
ebirs876657691
HLIrs876657691
Exacrs876657691
Gnomadrs876657691
Varsomers876657691
LitVarrs876657691
Maprs876657691
PheGenIrs876657691
Biobankrs876657691
1000 genomesrs876657691
hgdprs876657691
ensemblrs876657691
geneviewrs876657691
scholarrs876657691
googlers876657691
pharmgkbrs876657691
gwascentralrs876657691
openSNPrs876657691
23andMers876657691
SNPshotrs876657691
SNPdbers876657691
MSV3drs876657691
GWAS Ctlgrs876657691
Max Magnitude0
ClinVar
Risk rs876657691(A;A)
Alt rs876657691(A;A)
Reference Rs876657691(C;C)
Significance Pathogenic
Disease Melnick-Fraser syndrome
Variation info
Gene EYA1
CLNDBN Melnick-Fraser syndrome
Reversed 1
HGVS NC_000008.10:g.72184063G>T
CLNSRC
CLNACC RCV000219278.1,