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rs1136450

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1136450(C;G)
Make rs1136450(G;G)
ReferenceGRCh38 38.1/142
Chromosome10
Position79611973
GeneSFTPA1
is asnp
is mentioned by
dbSNPrs1136450
ebirs1136450
HLIrs1136450
Exacrs1136450
Varsomers1136450
Maprs1136450
PheGenIrs1136450
hapmaprs1136450
1000 genomesrs1136450
hgdprs1136450
ensemblrs1136450
gopubmedrs1136450
geneviewrs1136450
scholarrs1136450
googlers1136450
pharmgkbrs1136450
gwascentralrs1136450
openSNPrs1136450
23andMers1136450
23andMe allrs1136450
SNP Nexus

SNPshotrs1136450
SNPdbers1136450
MSV3drs1136450
GWAS Ctlgrs1136450
GMAF0.4063
Max Magnitude0
rs1136450 increases susceptibility to Idiopathic pulmonary fibrosis 6.68 times for carriers of the C allele [PMID 13680361]

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

GET Evidence
SFTPA1-L50V
aa_change Leu50Val
aa_change_short L50V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.398842
summary


ClinVar
Risk rs1136450(G;G)
Alt rs1136450(G;G)
Reference rs1136450(C;C)
Significance Non-pathogenic
Disease not specified
Variation info
Gene SFTPA1
CLNDBN not specified
Reversed 0
HGVS NC_000010.10:g.81371729C>G
CLNSRC
CLNACC RCV000217345.1,