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rs587776581

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(ATAC;ATAC) 0 common in clinvar
Make rs587776581(-;-)
Make rs587776581(-;ATAC)
ReferenceGRCh38 38.1/142
Chromosome5
Position150368834
GeneTCOF1
is asnp
is mentioned by
dbSNPrs587776581
ebirs587776581
HLIrs587776581
Exacrs587776581
Varsomers587776581
Maprs587776581
PheGenIrs587776581
hapmaprs587776581
1000 genomesrs587776581
hgdprs587776581
ensemblrs587776581
gopubmedrs587776581
geneviewrs587776581
scholarrs587776581
googlers587776581
pharmgkbrs587776581
gwascentralrs587776581
openSNPrs587776581
23andMers587776581
23andMe allrs587776581
SNP Nexus

SNPshotrs587776581
SNPdbers587776581
MSV3drs587776581
GWAS Ctlgrs587776581
Max Magnitude0
ClinVar
Risk rs587776581(;)
Alt rs587776581(;)
Reference rs587776581(ATAC;ATAC)
Significance Pathogenic
Disease Treacher collins syndrome 1
Variation info
Gene TCOF1
CLNDBN Treacher collins syndrome 1
Reversed 0
HGVS NC_000005.9:g.149748397_149748400delATAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000004168.3,