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

rs4715

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs4715(A;A)
Make rs4715(A;C)
ReferenceGRCh38 38.1/141
Chromosome8
Position22163524
GeneBMP1, SFTPC
is asnp
is mentioned by
dbSNPrs4715
ebirs4715
HLIrs4715
Exacrs4715
Varsomers4715
Maprs4715
PheGenIrs4715
hapmaprs4715
1000 genomesrs4715
hgdprs4715
ensemblrs4715
gopubmedrs4715
geneviewrs4715
scholarrs4715
googlers4715
pharmgkbrs4715
gwascentralrs4715
openSNPrs4715
23andMers4715
23andMe allrs4715
SNP Nexus

SNPshotrs4715
SNPdbers4715
MSV3drs4715
GWAS Ctlgrs4715
GMAF0.2126
Max Magnitude0
? (A;A) (A;C) (C;C) 28

[PMID 19735006] Genetic association of SP-C with duration of preterm premature rupture of fetal membranes and expression in gestational tissues


GET Evidence
SFTPC-T138N
aa_change Thr138Asn
aa_change_short T138N
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.20867
summary



ClinVar
Risk rs4715(A;A)
Alt rs4715(A;A)
Reference rs4715(C;C)
Significance Non-pathogenic
Disease not specified
Variation info
Gene SFTPC BMP1
CLNDBN not specified
Reversed 0
HGVS NC_000008.10:g.22021037C>A
CLNSRC
CLNACC RCV000151856.1,