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rs587777666

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587777666(G;G)
Make rs587777666(G;T)
ReferenceGRCh38 38.1/142
Chromosome10
Position68231542
GeneATOH7
is asnp
is mentioned by
dbSNPrs587777666
dbSNP (classic)rs587777666
ClinGenrs587777666
ebirs587777666
HLIrs587777666
Exacrs587777666
Gnomadrs587777666
Varsomers587777666
LitVarrs587777666
Maprs587777666
PheGenIrs587777666
Biobankrs587777666
1000 genomesrs587777666
hgdprs587777666
ensemblrs587777666
geneviewrs587777666
scholarrs587777666
googlers587777666
pharmgkbrs587777666
gwascentralrs587777666
openSNPrs587777666
23andMers587777666
SNPshotrs587777666
SNPdbers587777666
MSV3drs587777666
GWAS Ctlgrs587777666
Max Magnitude0
ClinVar
Risk rs587777666(G;G) Rs587777666(T;T)
Alt rs587777666(G;G) Rs587777666(T;T)
Reference Rs587777666(A;A)
Significance Pathogenic
Disease Persistent hyperplastic primary vitreous
Variation info
Gene ATOH7
CLNDBN Persistent hyperplastic primary vitreous, autosomal recessive
Reversed 1
HGVS NC_000010.10:g.69991299T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000133579.3,