Have questions? Visit https://www.reddit.com/r/SNPedia

rs587776582

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAAAG;AAAAG) 0 common in clinvar
Make rs587776582(-;-)
Make rs587776582(-;AAGAA)
Make rs587776582(AAGAA;AAGAA)
ReferenceGRCh38 38.1/142
Chromosome5
Position150398380
GeneTCOF1
is asnp
is mentioned by
dbSNPrs587776582
ebirs587776582
HLIrs587776582
Exacrs587776582
Varsomers587776582
Maprs587776582
PheGenIrs587776582
hapmaprs587776582
1000 genomesrs587776582
hgdprs587776582
ensemblrs587776582
gopubmedrs587776582
geneviewrs587776582
scholarrs587776582
googlers587776582
pharmgkbrs587776582
gwascentralrs587776582
openSNPrs587776582
23andMers587776582
23andMe allrs587776582
SNP Nexus

SNPshotrs587776582
SNPdbers587776582
MSV3drs587776582
GWAS Ctlgrs587776582
Max Magnitude0
ClinVar
Risk rs587776582(;)
Alt rs587776582(;)
Reference rs587776582(AAAAG;AAAAG)
Significance Pathogenic
Disease Treacher collins syndrome 1
Variation info
Gene TCOF1
CLNDBN Treacher collins syndrome 1
Reversed 0
HGVS NC_000005.9:g.149777943_149777947delAAGAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000004169.3,