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

rs121918560

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918560(C;C)
Make rs121918560(C;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position22164028
GeneBMP1, SFTPC
is asnp
is mentioned by
dbSNPrs121918560
ebirs121918560
HLIrs121918560
Exacrs121918560
Varsomers121918560
Maprs121918560
PheGenIrs121918560
hapmaprs121918560
1000 genomesrs121918560
hgdprs121918560
ensemblrs121918560
gopubmedrs121918560
geneviewrs121918560
scholarrs121918560
googlers121918560
pharmgkbrs121918560
gwascentralrs121918560
openSNPrs121918560
23andMers121918560
23andMe allrs121918560
SNP Nexus

SNPshotrs121918560
SNPdbers121918560
MSV3drs121918560
GWAS Ctlgrs121918560
Max Magnitude0
OMIM178620
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121918560(C;C)
Alt rs121918560(C;C)
Reference rs121918560(T;T)
Significance Pathogenic
Disease Surfactant metabolism dysfunction
Variation info
Gene SFTPC BMP1
CLNDBN Surfactant metabolism dysfunction, pulmonary, 2
Reversed 0
HGVS NC_000008.10:g.22021541T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000014101.25,