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rs28936691

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs28936691(A;C)
Make rs28936691(C;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position2278016
GeneABCA3
is asnp
is mentioned by
dbSNPrs28936691
ebirs28936691
HLIrs28936691
Exacrs28936691
Varsomers28936691
Maprs28936691
PheGenIrs28936691
hapmaprs28936691
1000 genomesrs28936691
hgdprs28936691
ensemblrs28936691
gopubmedrs28936691
geneviewrs28936691
scholarrs28936691
googlers28936691
pharmgkbrs28936691
gwascentralrs28936691
openSNPrs28936691
23andMers28936691
23andMe allrs28936691
SNP Nexus

SNPshotrs28936691
SNPdbers28936691
MSV3drs28936691
GWAS Ctlgrs28936691
Max Magnitude0
OMIM601615
DescSURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3
Variant0004
Relatedalso
Neighborrs28936690
Distance335


ClinVar
Risk rs28936691(C;C)
Alt rs28936691(C;C)
Reference rs28936691(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.2328017T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008478.2,