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rs1060499603

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060499603(G;T)
Make rs1060499603(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position71211239
GeneEYA1
is asnp
is mentioned by
dbSNPrs1060499603
dbSNP (old)rs1060499603
ClinGenrs1060499603
ebirs1060499603
HLIrs1060499603
Exacrs1060499603
Gnomadrs1060499603
Varsomers1060499603
Maprs1060499603
PheGenIrs1060499603
Biobankrs1060499603
1000 genomesrs1060499603
hgdprs1060499603
ensemblrs1060499603
gopubmedrs1060499603
geneviewrs1060499603
scholarrs1060499603
googlers1060499603
pharmgkbrs1060499603
gwascentralrs1060499603
openSNPrs1060499603
23andMers1060499603
23andMe allrs1060499603
SNPshotrs1060499603
SNPdbers1060499603
MSV3drs1060499603
GWAS Ctlgrs1060499603
Max Magnitude0
ClinVar
Risk rs1060499603(T;T)
Alt rs1060499603(T;T)
Reference Rs1060499603(G;G)
Significance Probable-Pathogenic
Disease Branchiootic syndrome Melnick-Fraser syndrome Otofaciocervical syndrome
Variation info
Gene EYA1
CLNDBN Branchiootic syndrome Melnick-Fraser syndrome Otofaciocervical syndrome
Reversed 1
HGVS NC_000008.10:g.72123474C>A
CLNSRC
CLNACC RCV000477858.1,