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rs587777249

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777249(C;T)
Make rs587777249(T;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position102114192
GeneYAP1
is asnp
is mentioned by
dbSNPrs587777249
dbSNP (classic)rs587777249
ClinGenrs587777249
ebirs587777249
HLIrs587777249
Exacrs587777249
Gnomadrs587777249
Varsomers587777249
LitVarrs587777249
Maprs587777249
PheGenIrs587777249
Biobankrs587777249
1000 genomesrs587777249
hgdprs587777249
ensemblrs587777249
geneviewrs587777249
scholarrs587777249
googlers587777249
pharmgkbrs587777249
gwascentralrs587777249
openSNPrs587777249
23andMers587777249
SNPshotrs587777249
SNPdbers587777249
MSV3drs587777249
GWAS Ctlgrs587777249
Max Magnitude0
ClinVar
Risk rs587777249(T;T)
Alt rs587777249(T;T)
Reference Rs587777249(C;C)
Significance Pathogenic
Disease Congenital ocular coloboma
Variation info
Gene YAP1
CLNDBN Congenital ocular coloboma
Reversed 0
HGVS NC_000011.9:g.101984923C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000106407.4,