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rs4253527

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common on affy axiom data
Make rs4253527(C;T)
Make rs4253527(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position79614021
GeneSFTPA1
is asnp
is mentioned by
dbSNPrs4253527
ebirs4253527
HLIrs4253527
Exacrs4253527
Varsomers4253527
Maprs4253527
PheGenIrs4253527
hapmaprs4253527
1000 genomesrs4253527
hgdprs4253527
ensemblrs4253527
gopubmedrs4253527
geneviewrs4253527
scholarrs4253527
googlers4253527
pharmgkbrs4253527
gwascentralrs4253527
openSNPrs4253527
23andMers4253527
23andMe allrs4253527
SNP Nexus

SNPshotrs4253527
SNPdbers4253527
MSV3drs4253527
GWAS Ctlgrs4253527
GMAF0.1299
Max Magnitude0
OMIM178630
DescPULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO
Variant0001
Relatedalso
ClinVar
Risk rs4253527(T;T)
Alt rs4253527(T;T)
Reference rs4253527(C;C)
Significance Non-pathogenic
Disease Pulmonary fibrosis not specified
Variation info
Gene SFTPA1
CLNDBN Pulmonary fibrosis, idiopathic, susceptibility to not specified
Reversed 0
HGVS NC_000010.10:g.81373777C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014093.4, RCV000155577.1,


[PMID 17407567OA-icon.png] Respiratory symptoms among infants at risk for asthma: association with surfactant protein A haplotypes.


[PMID 18263595] Genetic polymorphisms in the surfactant proteins in systemic sclerosis in Japanese: T/T genotype at 1580 C/T (Thr131Ile) in the SP-B gene reduces the risk of interstitial lung disease.


[PMID 22528218] Surfactant protein a polymorphism is associated with susceptibility to chronic obstructive pulmonary disease in Chinese Uighur population.