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rs121909184

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121909184(A;G)
Make rs121909184(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position2299442
GeneABCA3
is asnp
is mentioned by
dbSNPrs121909184
ebirs121909184
HLIrs121909184
Exacrs121909184
Varsomers121909184
Maprs121909184
PheGenIrs121909184
hapmaprs121909184
1000 genomesrs121909184
hgdprs121909184
ensemblrs121909184
gopubmedrs121909184
geneviewrs121909184
scholarrs121909184
googlers121909184
pharmgkbrs121909184
gwascentralrs121909184
openSNPrs121909184
23andMers121909184
23andMe allrs121909184
SNP Nexus

SNPshotrs121909184
SNPdbers121909184
MSV3drs121909184
GWAS Ctlgrs121909184
Max Magnitude0
OMIM601615
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121909184(G;G)
Alt rs121909184(G;G)
Reference rs121909184(A;A)
Significance Pathogenic
Disease Surfactant metabolism dysfunction
Variation info
Gene ABCA3
CLNDBN Surfactant metabolism dysfunction, pulmonary, 3
Reversed 1
HGVS NC_000016.9:g.2349443T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000008479.2,