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rs587777313

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGAG;AGAG) 0 common in clinvar
Make rs587777313(-;-)
Make rs587777313(-;AGAG)
ReferenceGRCh38 38.1/142
Chromosome5
Position150375487
GeneTCOF1
is asnp
is mentioned by
dbSNPrs587777313
ebirs587777313
HLIrs587777313
Exacrs587777313
Varsomers587777313
Maprs587777313
PheGenIrs587777313
hapmaprs587777313
1000 genomesrs587777313
hgdprs587777313
ensemblrs587777313
gopubmedrs587777313
geneviewrs587777313
scholarrs587777313
googlers587777313
pharmgkbrs587777313
gwascentralrs587777313
openSNPrs587777313
23andMers587777313
23andMe allrs587777313
SNP Nexus

SNPshotrs587777313
SNPdbers587777313
MSV3drs587777313
GWAS Ctlgrs587777313
Max Magnitude0
ClinVar
Risk rs587777313(;)
Alt rs587777313(;)
Reference rs587777313(AGAG;AGAG)
Significance Pathogenic
Disease Treacher collins syndrome 1
Variation info
Gene TCOF1
CLNDBN Treacher collins syndrome 1
Reversed 0
HGVS NC_000005.9:g.149755050_149755053delAGAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000114943.2,