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rs121917835

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121917835(A;A)
Make rs121917835(A;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position22164010
GeneBMP1, SFTPC
is asnp
is mentioned by
dbSNPrs121917835
ebirs121917835
HLIrs121917835
Exacrs121917835
Varsomers121917835
Maprs121917835
PheGenIrs121917835
hapmaprs121917835
1000 genomesrs121917835
hgdprs121917835
ensemblrs121917835
gopubmedrs121917835
geneviewrs121917835
scholarrs121917835
googlers121917835
pharmgkbrs121917835
gwascentralrs121917835
openSNPrs121917835
23andMers121917835
23andMe allrs121917835
SNP Nexus

SNPshotrs121917835
SNPdbers121917835
MSV3drs121917835
GWAS Ctlgrs121917835
Max Magnitude0
ClinVar
Risk rs121917835(A;A)
Alt rs121917835(A;A)
Reference rs121917835(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.22021523T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014097.25,