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rs606231240

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs606231240(-;-)
Make rs606231240(-;T)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position48303034
GeneCCDC114
is asnp
is mentioned by
dbSNPrs606231240
ebirs606231240
HLIrs606231240
Exacrs606231240
Varsomers606231240
Maprs606231240
PheGenIrs606231240
hapmaprs606231240
1000 genomesrs606231240
hgdprs606231240
ensemblrs606231240
gopubmedrs606231240
geneviewrs606231240
scholarrs606231240
googlers606231240
pharmgkbrs606231240
gwascentralrs606231240
openSNPrs606231240
23andMers606231240
23andMe allrs606231240
SNP Nexus

SNPshotrs606231240
SNPdbers606231240
MSV3drs606231240
GWAS Ctlgrs606231240
Max Magnitude0
ClinVar
Risk rs606231240(;)
Alt rs606231240(;)
Reference rs606231240(T;T)
Significance Pathogenic
Disease Ciliary dyskinesia
Variation info
Gene CCDC114
CLNDBN Ciliary dyskinesia, primary, 20
Reversed 1
HGVS NC_000019.9:g.48806291delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000032841.3,