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rs34957318

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs34957318(C;T)
Make rs34957318(T;T)
ReferenceGRCh38 38.1/142
Chromosome8
Position22163947
GeneBMP1, SFTPC
is asnp
is mentioned by
dbSNPrs34957318
ebirs34957318
HLIrs34957318
Exacrs34957318
Varsomers34957318
Maprs34957318
PheGenIrs34957318
hapmaprs34957318
1000 genomesrs34957318
hgdprs34957318
ensemblrs34957318
gopubmedrs34957318
geneviewrs34957318
scholarrs34957318
googlers34957318
pharmgkbrs34957318
gwascentralrs34957318
openSNPrs34957318
23andMers34957318
23andMe allrs34957318
SNP Nexus

SNPshotrs34957318
SNPdbers34957318
MSV3drs34957318
GWAS Ctlgrs34957318
GMAF0.003214
Max Magnitude0
OMIM178620
Desc
Variant0003
Relatedalso


ClinVar
Risk rs34957318(T;T)
Alt rs34957318(T;T)
Reference rs34957318(C;C)
Significance Pathogenic
Disease Surfactant metabolism dysfunction
Variation info
Gene SFTPC BMP1
CLNDBN Surfactant metabolism dysfunction, pulmonary, 2
Reversed 1
HGVS NC_000008.10:g.22021460G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014096.26,