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rs121917834

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121917834(C;C)
Make rs121917834(C;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position22163096
GeneSFTPC
is asnp
is mentioned by
dbSNPrs121917834
ebirs121917834
HLIrs121917834
Exacrs121917834
Varsomers121917834
Maprs121917834
PheGenIrs121917834
hapmaprs121917834
1000 genomesrs121917834
hgdprs121917834
ensemblrs121917834
gopubmedrs121917834
geneviewrs121917834
scholarrs121917834
googlers121917834
pharmgkbrs121917834
gwascentralrs121917834
openSNPrs121917834
23andMers121917834
23andMe allrs121917834
SNP Nexus

SNPshotrs121917834
SNPdbers121917834
MSV3drs121917834
GWAS Ctlgrs121917834
Max Magnitude0
ClinVar
Risk rs121917834(A,C;A,C)
Alt rs121917834(A,C;A,C)
Reference rs121917834(T;T)
Significance Pathogenic
Disease Surfactant metabolism dysfunction
Variation info
Gene SFTPC
CLNDBN Surfactant metabolism dysfunction, pulmonary, 2
Reversed 0
HGVS NC_000008.10:g.22020609T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000014095.25,