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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
dbSNP (classic)rs1130866
ClinGenrs1130866
ebirs1130866
HLIrs1130866
Exacrs1130866
Gnomadrs1130866
Varsomers1130866
LitVarrs1130866
Maprs1130866
PheGenIrs1130866
Biobankrs1130866
1000 genomesrs1130866
hgdprs1130866
ensemblrs1130866
geneviewrs1130866
scholarrs1130866
googlers1130866
pharmgkbrs1130866
gwascentralrs1130866
openSNPrs1130866
23andMers1130866
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]


[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.


[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 Pulmonary Surfactant Metabolism Dysfunction
Variation info
Gene SFTPB
CLNDBN not specified Pulmonary Surfactant Metabolism Dysfunction, Recessive
Reversed 1
HGVS NC_000002.11:g.85893741G>A
CLNSRC
CLNACC RCV000151850.2, RCV000263751.1,



[PMID 33469544OA-icon.png] SNP and Haplotype Interaction Models Reveal Association of Surfactant Protein Gene Polymorphisms With Hypersensitivity Pneumonitis of Mexican Population.