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rs15251

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs15251(C;T)
Make rs15251(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position150396669
GeneTCOF1
is asnp
is mentioned by
dbSNPrs15251
ebirs15251
HLIrs15251
Exacrs15251
Varsomers15251
Maprs15251
PheGenIrs15251
hapmaprs15251
1000 genomesrs15251
hgdprs15251
ensemblrs15251
gopubmedrs15251
geneviewrs15251
scholarrs15251
googlers15251
pharmgkbrs15251
gwascentralrs15251
openSNPrs15251
23andMers15251
23andMe allrs15251
SNP Nexus

SNPshotrs15251
SNPdbers15251
MSV3drs15251
GWAS Ctlgrs15251
GMAF0.2144
Max Magnitude0
? (C;C) (C;T) (T;T) 28
[PMID 18688869OA-icon.png] rs2255796 and rs15251 suggested excess maternal transmission and may influence risk of cleft palate


Venter snp
Source plos
Gene TCOF1
allele T
frequency 0.233
sift
HuRef 1103654256557
Disease Association Defects in TCOF1 are the cause of Treacher Collins syndrome (TCS) (MIM:154500). TCS is an autosomal dominant disorder of craniofacial development that occurs with an incidence of 1/50,000 live births. The clinical features of TCS are bilaterally symmetrical and include: (1) abnormalities of the external ears, atresia of the external ear canals, and malformation of the middle ear ossicles, which may result in conductive hearing loss; (2) lateral downward sloping of palpebral fissures, frequently with colobomas of the lower eyelids; (3) hypoplasia of the mandible and zygomatic complex; (4) cleft palate.



GET Evidence
TCOF1-A1352V
aa_change Ala1352Val
aa_change_short A1352V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.234375
summary



ClinVar
Risk rs15251(T;T)
Alt rs15251(T;T)
Reference rs15251(C;C)
Significance Probable-non-pathogenic
Disease not specified
Variation info
Gene TCOF1
CLNDBN not specified
Reversed 0
HGVS NC_000005.9:g.149776232C>T
CLNSRC ClinVar University of Chicago
CLNACC RCV000118615.2,