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rs587777250

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777250(G;T)
Make rs587777250(T;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position102223655
GeneYAP1
is asnp
is mentioned by
dbSNPrs587777250
ebirs587777250
HLIrs587777250
Exacrs587777250
Varsomers587777250
Maprs587777250
PheGenIrs587777250
hapmaprs587777250
1000 genomesrs587777250
hgdprs587777250
ensemblrs587777250
gopubmedrs587777250
geneviewrs587777250
scholarrs587777250
googlers587777250
pharmgkbrs587777250
gwascentralrs587777250
openSNPrs587777250
23andMers587777250
23andMe allrs587777250
SNP Nexus

SNPshotrs587777250
SNPdbers587777250
MSV3drs587777250
GWAS Ctlgrs587777250
Max Magnitude0
ClinVar
Risk rs587777250(T;T)
Alt rs587777250(T;T)
Reference rs587777250(G;G)
Significance Pathogenic
Disease Coloboma
Variation info
Gene YAP1
CLNDBN Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation
Reversed 0
HGVS NC_000011.9:g.102094386G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000106408.3,