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rs201133219

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs201133219(C;T)
Make rs201133219(T;T)
ReferenceGRCh38 38.1/142
Chromosome19
Position48297995
GeneCCDC114
is asnp
is mentioned by
dbSNPrs201133219
ebirs201133219
HLIrs201133219
Exacrs201133219
Varsomers201133219
Maprs201133219
PheGenIrs201133219
hapmaprs201133219
1000 genomesrs201133219
hgdprs201133219
ensemblrs201133219
gopubmedrs201133219
geneviewrs201133219
scholarrs201133219
googlers201133219
pharmgkbrs201133219
gwascentralrs201133219
openSNPrs201133219
23andMers201133219
23andMe allrs201133219
SNP Nexus

SNPshotrs201133219
SNPdbers201133219
MSV3drs201133219
GWAS Ctlgrs201133219
Max Magnitude0
ClinVar
Risk rs201133219(T;T)
Alt rs201133219(T;T)
Reference rs201133219(C;C)
Significance Pathogenic
Disease Ciliary dyskinesia
Variation info
Gene CCDC114
CLNDBN Ciliary dyskinesia, primary, 20
Reversed 0
HGVS NC_000019.9:g.48801252C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032840.3,