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rs754714105

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs754714105(C;T)
Make rs754714105(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position2326201
GeneABCA3
is asnp
is mentioned by
dbSNPrs754714105
dbSNP (classic)rs754714105
ClinGenrs754714105
ebirs754714105
HLIrs754714105
Exacrs754714105
Gnomadrs754714105
Varsomers754714105
LitVarrs754714105
Maprs754714105
PheGenIrs754714105
Biobankrs754714105
1000 genomesrs754714105
hgdprs754714105
ensemblrs754714105
geneviewrs754714105
scholarrs754714105
googlers754714105
pharmgkbrs754714105
gwascentralrs754714105
openSNPrs754714105
23andMers754714105
SNPshotrs754714105
SNPdbers754714105
MSV3drs754714105
GWAS Ctlgrs754714105
Max Magnitude0
ClinVar
Risk rs754714105(T;T)
Alt rs754714105(T;T)
Reference Rs754714105(C;C)
Significance Pathogenic
Disease Pulmonary Surfactant Metabolism Dysfunction
Variation info
Gene ABCA3
CLNDBN Pulmonary Surfactant Metabolism Dysfunction
Reversed 0
HGVS NC_000016.9:g.2376202C>T
CLNSRC
CLNACC RCV000221771.1,