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rs587777314

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587777314(-;-)
Make rs587777314(-;G)
Make rs587777314(G;G)
ReferenceGRCh38 38.1/142
Chromosome5
Position150389947
GeneTCOF1
is asnp
is mentioned by
dbSNPrs587777314
ebirs587777314
HLIrs587777314
Exacrs587777314
Varsomers587777314
Maprs587777314
PheGenIrs587777314
hapmaprs587777314
1000 genomesrs587777314
hgdprs587777314
ensemblrs587777314
gopubmedrs587777314
geneviewrs587777314
scholarrs587777314
googlers587777314
pharmgkbrs587777314
gwascentralrs587777314
openSNPrs587777314
23andMers587777314
23andMe allrs587777314
SNP Nexus

SNPshotrs587777314
SNPdbers587777314
MSV3drs587777314
GWAS Ctlgrs587777314
Max Magnitude0
ClinVar
Risk rs587777314(G;G)
Alt rs587777314(G;G)
Reference rs587777314(;)
Significance Pathogenic
Disease Treacher collins syndrome 1
Variation info
Gene TCOF1
CLNDBN Treacher collins syndrome 1
Reversed 0
HGVS NC_000005.9:g.149769510dupG
CLNSRC OMIM Allelic Variant
CLNACC RCV000114944.2,