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rs606231239

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs606231239(A;G)
Make rs606231239(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position48306325
GeneCCDC114
is asnp
is mentioned by
dbSNPrs606231239
ebirs606231239
HLIrs606231239
Exacrs606231239
Varsomers606231239
Maprs606231239
PheGenIrs606231239
hapmaprs606231239
1000 genomesrs606231239
hgdprs606231239
ensemblrs606231239
gopubmedrs606231239
geneviewrs606231239
scholarrs606231239
googlers606231239
pharmgkbrs606231239
gwascentralrs606231239
openSNPrs606231239
23andMers606231239
23andMe allrs606231239
SNP Nexus

SNPshotrs606231239
SNPdbers606231239
MSV3drs606231239
GWAS Ctlgrs606231239
Max Magnitude0
ClinVar
Risk rs606231239(G;G)
Alt rs606231239(G;G)
Reference rs606231239(A;A)
Significance Pathogenic
Disease Ciliary dyskinesia
Variation info
Gene CCDC114
CLNDBN Ciliary dyskinesia, primary, 20
Reversed 1
HGVS NC_000019.9:g.48809582T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000032839.3,