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rs145457535

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs145457535(A;C)
Make rs145457535(C;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position44902549
GeneCCDC103
is asnp
is mentioned by
dbSNPrs145457535
dbSNP (classic)rs145457535
ClinGenrs145457535
ebirs145457535
HLIrs145457535
Exacrs145457535
Gnomadrs145457535
Varsomers145457535
LitVarrs145457535
Maprs145457535
PheGenIrs145457535
Biobankrs145457535
1000 genomesrs145457535
hgdprs145457535
ensemblrs145457535
geneviewrs145457535
scholarrs145457535
googlers145457535
pharmgkbrs145457535
gwascentralrs145457535
openSNPrs145457535
23andMers145457535
SNPshotrs145457535
SNPdbers145457535
MSV3drs145457535
GWAS Ctlgrs145457535
Max Magnitude0
ClinVar
Risk rs145457535(C;C)
Alt rs145457535(C;C)
Reference Rs145457535(A;A)
Significance Pathogenic
Disease Ciliary dyskinesia Kartagener syndrome Primary ciliary dyskinesia
Variation info
Gene CCDC103
CLNDBN Ciliary dyskinesia, primary, 17 Kartagener syndrome Primary ciliary dyskinesia
Reversed 0
HGVS NC_000017.10:g.42979917A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000024376.4, RCV000190916.1, RCV000226016.2,