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rs121909185

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121909185(C;C)
Make rs121909185(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position2317661
GeneABCA3
is asnp
is mentioned by
dbSNPrs121909185
ebirs121909185
HLIrs121909185
Exacrs121909185
Varsomers121909185
Maprs121909185
PheGenIrs121909185
hapmaprs121909185
1000 genomesrs121909185
hgdprs121909185
ensemblrs121909185
gopubmedrs121909185
geneviewrs121909185
scholarrs121909185
googlers121909185
pharmgkbrs121909185
gwascentralrs121909185
openSNPrs121909185
23andMers121909185
23andMe allrs121909185
SNP Nexus

SNPshotrs121909185
SNPdbers121909185
MSV3drs121909185
GWAS Ctlgrs121909185
Max Magnitude0
OMIM601615
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121909185(C;C)
Alt rs121909185(C;C)
Reference rs121909185(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.2367662A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008481.2,