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rs147718607

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs147718607(C;T)
Make rs147718607(T;T)
ReferenceGRCh38 38.1/142
Chromosome19
Position48303953
GeneCCDC114
is asnp
is mentioned by
dbSNPrs147718607
ebirs147718607
HLIrs147718607
Exacrs147718607
Varsomers147718607
Maprs147718607
PheGenIrs147718607
hapmaprs147718607
1000 genomesrs147718607
hgdprs147718607
ensemblrs147718607
gopubmedrs147718607
geneviewrs147718607
scholarrs147718607
googlers147718607
pharmgkbrs147718607
gwascentralrs147718607
openSNPrs147718607
23andMers147718607
23andMe allrs147718607
SNP Nexus

SNPshotrs147718607
SNPdbers147718607
MSV3drs147718607
GWAS Ctlgrs147718607
Max Magnitude0
ClinVar
Risk rs147718607(T;T)
Alt rs147718607(T;T)
Reference rs147718607(C;C)
Significance Pathogenic
Disease Ciliary dyskinesia Kartagener syndrome Primary ciliary dyskinesia
Variation info
Gene CCDC114
CLNDBN Ciliary dyskinesia, primary, 20 Kartagener syndrome Primary ciliary dyskinesia
Reversed 0
HGVS NC_000019.9:g.48807210C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032837.3, RCV000190918.1, RCV000231978.1,