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rs876657633

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AAGGTGC;AAGGTGC) 0 common in clinvar
Make rs876657633(AAGGTGC;CCA)
Make rs876657633(CCA;CCA)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position2300001
GeneABCA3
is asnp
is mentioned by
dbSNPrs876657633
dbSNP (classic)rs876657633
ClinGenrs876657633
ebirs876657633
HLIrs876657633
Exacrs876657633
Gnomadrs876657633
Varsomers876657633
LitVarrs876657633
Maprs876657633
PheGenIrs876657633
Biobankrs876657633
1000 genomesrs876657633
hgdprs876657633
ensemblrs876657633
geneviewrs876657633
scholarrs876657633
googlers876657633
pharmgkbrs876657633
gwascentralrs876657633
openSNPrs876657633
23andMers876657633
SNPshotrs876657633
SNPdbers876657633
MSV3drs876657633
GWAS Ctlgrs876657633
Max Magnitude0
ClinVar
Risk rs876657633(CCA;CCA)
Alt rs876657633(CCA;CCA)
Reference Rs876657633(AAGGTGC;AAGGTGC)
Significance Probable-Pathogenic
Disease Idiopathic fibrosing alveolitis
Variation info
Gene ABCA3
CLNDBN Idiopathic fibrosing alveolitis, chronic form
Reversed 1
HGVS NC_000016.9:g.2350002_2350008delinsTGG
CLNSRC
CLNACC RCV000215018.1,