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

rs1130866

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 normal
(C;T) 0 normal
(T;T) if sclerotic, reduced risk of lung disease
ReferenceGRCh38 38.1/141
Chromosome2
Position85666618
GeneSFTPB
is asnp
is mentioned by
dbSNPrs1130866
ebirs1130866
HLIrs1130866
Exacrs1130866
Varsomers1130866
Maprs1130866
PheGenIrs1130866
hapmaprs1130866
1000 genomesrs1130866
hgdprs1130866
ensemblrs1130866
gopubmedrs1130866
geneviewrs1130866
scholarrs1130866
googlers1130866
pharmgkbrs1130866
gwascentralrs1130866
openSNPrs1130866
23andMers1130866
23andMe allrs1130866
SNP Nexus

SNPshotrs1130866
SNPdbers1130866
MSV3drs1130866
GWAS Ctlgrs1130866
GMAF0.4913
Max Magnitude0
? (C;C) (C;T) (T;T) 28
rs1130866 is a SNP altering an amino acid at position 131 of the pulmonary-associated protein B surfactant SFTPB gene. On it's own, it does not affect the odds of acquiring systemic sclerosis.

However, in a study of 127 Japanese patients who already had systemic sclerosis, rs1130866(T;T) homozygotes were found to be at reduced risk for interstitial lung disease.[PMID 18263595]


Venter snp
Source plos
Gene SFTPB
allele A
frequency 0.542
sift TOLERATED
HuRef 1103658153251
Disease Association Defects in SFTPB are a cause of congenital pulmonary alveolar proteinosis (PAP) (MIM:265120). PAP is an autosomal recessive fatal respiratory disease.



[PMID 21283003] The influence of genetic variation in surfactant protein B on severe lung injury in black children

[PMID 17054776OA-icon.png] The genetics of chronic obstructive pulmonary disease.

[PMID 17498296OA-icon.png] Surfactant protein B polymorphisms are associated with severe respiratory syncytial virus infection, but not with asthma.

[PMID 17540055] No association between coding polymorphism within Exon 4 of the human surfactant protein B gene and pulmonary function in healthy men.

[PMID 18550614OA-icon.png] Polymorphic variation in surfactant protein B is associated with COPD exacerbations.

[PMID 18776725OA-icon.png] Developmental and genetic regulation of human surfactant protein B in vivo.

[PMID 20233420OA-icon.png] Cluster analysis in severe emphysema subjects using phenotype and genotype data: an exploratory investigation.

[PMID 20693256] Surfactant protein B polymorphisms, pulmonary function and COPD in 10,231 individuals.


GET Evidence
SFTPB-T143I
aa_change Thr143Ile
aa_change_short T143I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency
summary



[PMID 24337193] Surfactant protein B gene polymorphism is associated with severe influenza


ClinVar
Risk rs1130866(T;T)
Alt rs1130866(T;T)
Reference rs1130866(C;C)
Significance Non-pathogenic
Disease not specified
Variation info
Gene SFTPB
CLNDBN not specified
Reversed 1
HGVS NC_000002.11:g.85893741G>A
CLNSRC
CLNACC RCV000151850.1,