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

rs721917

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs721917(C;C)
Make rs721917(C;T)
ReferenceGRCh38 38.1/142
Chromosome10
Position79946568
GeneSFTPD
is asnp
is mentioned by
dbSNPrs721917
ebirs721917
HLIrs721917
Exacrs721917
Varsomers721917
Maprs721917
PheGenIrs721917
hapmaprs721917
1000 genomesrs721917
hgdprs721917
ensemblrs721917
gopubmedrs721917
geneviewrs721917
scholarrs721917
googlers721917
pharmgkbrs721917
gwascentralrs721917
openSNPrs721917
23andMers721917
23andMe allrs721917
SNP Nexus

SNPshotrs721917
SNPdbers721917
MSV3drs721917
GWAS Ctlgrs721917
GMAF0.4683
Max Magnitude0
? (C;C) (C;T) (T;T) 28
[PMID 21934714OA-icon.png] Involvement of surfactant protein D in emphysema revealed by genetic association study


[PMID 22509983] Association Between Genetic Variations In Surfactant Protein D and Emphysema, Interstitial Pneumonia, and Lung Cancer in a Japanese Population

[PMID 16846490OA-icon.png] Lemierre's syndrome and genetic polymorphisms: a case report.

[PMID 20018039OA-icon.png] Associating multiple longitudinal traits with high-dimensional single-nucleotide polymorphism data: application to the Framingham Heart Study.

[PMID 20448057OA-icon.png] Polymorphisms in surfactant protein-D are associated with chronic obstructive pulmonary disease.

[PMID 21790524OA-icon.png] Genetic variants and monoallelic expression of surfactant protein-D in inflammatory bowel disease.


GET Evidence
SFTPD-M31T
aa_change Met31Thr
aa_change_short M31T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.411136
summary



[PMID 23577114OA-icon.png] Common Genetic Variants of Surfactant Protein-D (SP-D) Are Associated with Type 2 Diabetes


[PMID 25015576] Surfactant Protein-D-Encoding Gene Variant Polymorphisms Are Linked to Respiratory Outcome in Premature Infants


ClinVar
Risk rs721917(C;C)
Alt rs721917(C;C)
Reference rs721917(T;T)
Significance Non-pathogenic
Disease not specified
Variation info
Gene SFTPD
CLNDBN not specified
Reversed 1
HGVS NC_000010.10:g.81706324A>G
CLNSRC
CLNACC RCV000151865.2,



[PMID 26748346] Association between the surfactant protein D (SFTPD) gene and subclinical carotid artery atherosclerosis.


[PMID 27654735] SNP rs3088308 is a risk factor for poor lung function in healthy smokers.