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rs143740376

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs143740376(A;A)
Make rs143740376(A;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position32609853
GeneC21orf59
is asnp
is mentioned by
dbSNPrs143740376
dbSNP (classic)rs143740376
ClinGenrs143740376
ebirs143740376
HLIrs143740376
Exacrs143740376
Gnomadrs143740376
Varsomers143740376
LitVarrs143740376
Maprs143740376
PheGenIrs143740376
Biobankrs143740376
1000 genomesrs143740376
hgdprs143740376
ensemblrs143740376
geneviewrs143740376
scholarrs143740376
googlers143740376
pharmgkbrs143740376
gwascentralrs143740376
openSNPrs143740376
23andMers143740376
SNPshotrs143740376
SNPdbers143740376
MSV3drs143740376
GWAS Ctlgrs143740376
Max Magnitude0
ClinVar
Risk rs143740376(A;A)
Alt rs143740376(A;A)
Reference Rs143740376(G;G)
Significance Pathogenic
Disease Ciliary dyskinesia Kartagener syndrome
Variation info
Gene C21orf59
CLNDBN Ciliary dyskinesia, primary, 26 Kartagener syndrome
Reversed 0
HGVS NC_000021.8:g.33982163G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000074372.4, RCV000190937.1,