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rs587776585

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;A) 5 Treacher Collins syndrome, type 1 (predicted)
(A;A) 0 common in clinvar


Make rs587776585(-;-)
ReferenceGRCh38 38.1/142
Chromosome5
Position150398376
GeneTCOF1
is asnp
is mentioned by
dbSNPrs587776585
dbSNP (classic)rs587776585
ClinGenrs587776585
ebirs587776585
HLIrs587776585
Exacrs587776585
Gnomadrs587776585
Varsomers587776585
LitVarrs587776585
Maprs587776585
PheGenIrs587776585
Biobankrs587776585
1000 genomesrs587776585
hgdprs587776585
ensemblrs587776585
geneviewrs587776585
scholarrs587776585
googlers587776585
pharmgkbrs587776585
gwascentralrs587776585
openSNPrs587776585
23andMers587776585
SNPshotrs587776585
SNPdbers587776585
MSV3drs587776585
GWAS Ctlgrs587776585
Max Magnitude5
ClinVar
Risk rs587776585(-;-)
Alt rs587776585(-;-)
Reference Rs587776585(A;A)
Significance Pathogenic
Disease Treacher Collins syndrome 1
Variation info
Gene TCOF1
CLNDBN Treacher Collins syndrome 1
Reversed 0
HGVS NC_000005.9:g.149777939delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000004174.3,