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rs876657689

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs876657689(G;T)
Make rs876657689(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome8
Position71244653
GeneEYA1
is asnp
is mentioned by
dbSNPrs876657689
ebirs876657689
HLIrs876657689
Exacrs876657689
Varsomers876657689
Maprs876657689
PheGenIrs876657689
hapmaprs876657689
1000 genomesrs876657689
hgdprs876657689
ensemblrs876657689
gopubmedrs876657689
geneviewrs876657689
scholarrs876657689
googlers876657689
pharmgkbrs876657689
gwascentralrs876657689
openSNPrs876657689
23andMers876657689
23andMe allrs876657689
SNP Nexus

SNPshotrs876657689
SNPdbers876657689
MSV3drs876657689
GWAS Ctlgrs876657689
Max Magnitude0
ClinVar
Risk rs876657689(T;T)
Alt rs876657689(T;T)
Reference rs876657689(G;G)
Significance Pathogenic
Disease Melnick-Fraser syndrome
Variation info
Gene EYA1
CLNDBN Melnick-Fraser syndrome
Reversed 1
HGVS NC_000008.10:g.72156888C>A
CLNSRC
CLNACC RCV000221224.1,