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rs2243639

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs2243639(C;C)
Make rs2243639(C;T)
ReferenceGRCh38 38.1/142
Chromosome10
Position79941966
GeneSFTPD
is asnp
is mentioned by
dbSNPrs2243639
ebirs2243639
HLIrs2243639
Exacrs2243639
Varsomers2243639
Maprs2243639
PheGenIrs2243639
hapmaprs2243639
1000 genomesrs2243639
hgdprs2243639
ensemblrs2243639
gopubmedrs2243639
geneviewrs2243639
scholarrs2243639
googlers2243639
pharmgkbrs2243639
gwascentralrs2243639
openSNPrs2243639
23andMers2243639
23andMe allrs2243639
SNP Nexus

SNPshotrs2243639
SNPdbers2243639
MSV3drs2243639
GWAS Ctlgrs2243639
GMAF0.258
Max Magnitude0
? (C;C) (C;T) (T;T) 28

[PMID 19340882] Genetic variants in surfactant, pulmonary-associated protein D (SFTPD) and Japanese susceptibility to ulcerative colitis

[PMID 15726497OA-icon.png] Gene-environment interaction effects on the development of immune responses in the 1st year of life.

[PMID 16385451OA-icon.png] A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.

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

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


GET Evidence
SFTPD-T180A
aa_change Thr180Ala
aa_change_short T180A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.71491
summary



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


ClinVar
Risk rs2243639(C;C)
Alt rs2243639(C;C)
Reference rs2243639(T;T)
Significance Non-pathogenic
Disease not specified
Variation info
Gene SFTPD
CLNDBN not specified
Reversed 0
HGVS NC_000010.10:g.81701722T>C
CLNSRC
CLNACC RCV000151861.2,