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rs121917836

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121917836(A;A)
Make rs121917836(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position22162727
GeneSFTPC
is asnp
is mentioned by
dbSNPrs121917836
dbSNP (classic)rs121917836
ClinGenrs121917836
ebirs121917836
HLIrs121917836
Exacrs121917836
Gnomadrs121917836
Varsomers121917836
LitVarrs121917836
Maprs121917836
PheGenIrs121917836
Biobankrs121917836
1000 genomesrs121917836
hgdprs121917836
ensemblrs121917836
geneviewrs121917836
scholarrs121917836
googlers121917836
pharmgkbrs121917836
gwascentralrs121917836
openSNPrs121917836
23andMers121917836
SNPshotrs121917836
SNPdbers121917836
MSV3drs121917836
GWAS Ctlgrs121917836
Max Magnitude0
ClinVar
Risk rs121917836(A;A)
Alt rs121917836(A;A)
Reference Rs121917836(G;G)
Significance Pathogenic
Disease Surfactant metabolism dysfunction
Variation info
Gene SFTPC
CLNDBN Surfactant metabolism dysfunction, pulmonary, 2
Reversed 0
HGVS NC_000008.10:g.22020240G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014100.26,