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rs7481951

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs7481951(A;T)
Make rs7481951(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position22250324
GeneANO5
is asnp
is mentioned by
dbSNPrs7481951
ebirs7481951
HLIrs7481951
Exacrs7481951
Varsomers7481951
Maprs7481951
PheGenIrs7481951
hapmaprs7481951
1000 genomesrs7481951
hgdprs7481951
ensemblrs7481951
gopubmedrs7481951
geneviewrs7481951
scholarrs7481951
googlers7481951
pharmgkbrs7481951
gwascentralrs7481951
openSNPrs7481951
23andMers7481951
23andMe allrs7481951
SNP Nexus

SNPshotrs7481951
SNPdbers7481951
MSV3drs7481951
GWAS Ctlgrs7481951
GMAF0.3489
Max Magnitude0
? (A;A) (A;T) (T;T) 28
Venter snp
Source plos
Gene TMEM16E
allele T
frequency 0.617
sift TOLERATED
HuRef 1103649629510
Disease Association Defects in TMEM16E are the cause of gnathodiaphyseal dysplasia (GDD) (MIM:166260); also called osteogenesis imperfecta with unusual skeletal lesions or gnathodiaphyseal sclerosis. GDD is a rare skeletal syndrome characterized by bone fragility, sclerosis of tubular bones, and cemento-osseous lesions of the jawbone. Patients experience frequent bone fractures caused by trivial accidents in childhood; however the fractures healed normally without bone deformity. The jaw lesions replace the tooth-bearing segments of the maxilla and mandible with fibrous connective tissues, including various amounts of cementum-like calcified mass, sometimes causing facial deformities. Patients also have a propensity for jaw infection and often suffer from purulent osteomyelitis-like symptoms, such as swelling of and pus discharge from the gums, mobility of the teeth, insufficient healing after tooth extraction and exposure of the lesions into the oral cavity.



ClinVar
Risk rs7481951(T;T)
Alt rs7481951(T;T)
Reference rs7481951(A;A)
Significance Non-pathogenic
Disease not specified not provided
Variation info
Gene ANO5
CLNDBN not specified not provided
Reversed 0
HGVS NC_000011.9:g.22271870A>T
CLNSRC ClinVar Emory University
CLNACC RCV000082855.6, RCV000128791.1,



GET Evidence
ANO5-L322F
aa_change Leu322Phe
aa_change_short L322F
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.446727
summary