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rs587776583

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs587776583(-;-)
Make rs587776583(-;AG)
ReferenceGRCh38 38.1/142
Chromosome5
Position150375489
GeneTCOF1
is asnp
is mentioned by
dbSNPrs587776583
ebirs587776583
HLIrs587776583
Exacrs587776583
Varsomers587776583
Maprs587776583
PheGenIrs587776583
hapmaprs587776583
1000 genomesrs587776583
hgdprs587776583
ensemblrs587776583
gopubmedrs587776583
geneviewrs587776583
scholarrs587776583
googlers587776583
pharmgkbrs587776583
gwascentralrs587776583
openSNPrs587776583
23andMers587776583
23andMe allrs587776583
SNP Nexus

SNPshotrs587776583
SNPdbers587776583
MSV3drs587776583
GWAS Ctlgrs587776583
Max Magnitude0
ClinVar
Risk rs587776583(;)
Alt rs587776583(;)
Reference rs587776583(AG;AG)
Significance Pathogenic
Disease Treacher collins syndrome 1
Variation info
Gene TCOF1
CLNDBN Treacher collins syndrome 1
Reversed 0
HGVS NC_000005.9:g.149755052_149755053delAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000004171.3,