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

rs121918559

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918559(A;A)
Make rs121918559(A;C)
ReferenceGRCh38 38.1/141
Chromosome8
Position22163458
GeneBMP1, SFTPC
is asnp
is mentioned by
dbSNPrs121918559
ebirs121918559
HLIrs121918559
Exacrs121918559
Varsomers121918559
Maprs121918559
PheGenIrs121918559
hapmaprs121918559
1000 genomesrs121918559
hgdprs121918559
ensemblrs121918559
gopubmedrs121918559
geneviewrs121918559
scholarrs121918559
googlers121918559
pharmgkbrs121918559
gwascentralrs121918559
openSNPrs121918559
23andMers121918559
23andMe allrs121918559
SNP Nexus

SNPshotrs121918559
SNPdbers121918559
MSV3drs121918559
GWAS Ctlgrs121918559
Max Magnitude0
OMIM178620
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121918559(A;A)
Alt rs121918559(A;A)
Reference rs121918559(C;C)
Significance Pathogenic
Disease Surfactant metabolism dysfunction
Variation info
Gene SFTPC BMP1
CLNDBN Surfactant metabolism dysfunction, pulmonary, 2
Reversed 0
HGVS NC_000008.10:g.22020971C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014099.24,