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rs121909183

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121909183(C;C)
Make rs121909183(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position2278348
GeneABCA3
is asnp
is mentioned by
dbSNPrs121909183
ebirs121909183
HLIrs121909183
Exacrs121909183
Varsomers121909183
Maprs121909183
PheGenIrs121909183
hapmaprs121909183
1000 genomesrs121909183
hgdprs121909183
ensemblrs121909183
gopubmedrs121909183
geneviewrs121909183
scholarrs121909183
googlers121909183
pharmgkbrs121909183
gwascentralrs121909183
openSNPrs121909183
23andMers121909183
23andMe allrs121909183
SNP Nexus

SNPshotrs121909183
SNPdbers121909183
MSV3drs121909183
GWAS Ctlgrs121909183
Max Magnitude0
OMIM601615
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121909183(C;C)
Alt rs121909183(C;C)
Reference rs121909183(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.2328349A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008477.2,