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rs121909182

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121909182(C;C)
Make rs121909182(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position2326027
GeneABCA3
is asnp
is mentioned by
dbSNPrs121909182
ebirs121909182
HLIrs121909182
Exacrs121909182
Varsomers121909182
Maprs121909182
PheGenIrs121909182
hapmaprs121909182
1000 genomesrs121909182
hgdprs121909182
ensemblrs121909182
gopubmedrs121909182
geneviewrs121909182
scholarrs121909182
googlers121909182
pharmgkbrs121909182
gwascentralrs121909182
openSNPrs121909182
23andMers121909182
23andMe allrs121909182
SNP Nexus

SNPshotrs121909182
SNPdbers121909182
MSV3drs121909182
GWAS Ctlgrs121909182
Merged fromRs28936412
Max Magnitude0
OMIM601615
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121909182(C;C)
Alt rs121909182(C;C)
Reference rs121909182(T;T)
Significance Pathogenic
Disease Surfactant metabolism dysfunction
Variation info
Gene ABCA3
CLNDBN Surfactant metabolism dysfunction, pulmonary, 3
Reversed 1
HGVS NC_000016.9:g.2376028A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008476.2,