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rs606231238

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs606231238(A;A)
Make rs606231238(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position48311552
GeneCCDC114
is asnp
is mentioned by
dbSNPrs606231238
ebirs606231238
HLIrs606231238
Exacrs606231238
Varsomers606231238
Maprs606231238
PheGenIrs606231238
hapmaprs606231238
1000 genomesrs606231238
hgdprs606231238
ensemblrs606231238
gopubmedrs606231238
geneviewrs606231238
scholarrs606231238
googlers606231238
pharmgkbrs606231238
gwascentralrs606231238
openSNPrs606231238
23andMers606231238
23andMe allrs606231238
SNP Nexus

SNPshotrs606231238
SNPdbers606231238
MSV3drs606231238
GWAS Ctlgrs606231238
Max Magnitude0
ClinVar
Risk rs606231238(A;A)
Alt rs606231238(A;A)
Reference rs606231238(G;G)
Significance Pathogenic
Disease Ciliary dyskinesia
Variation info
Gene CCDC114
CLNDBN Ciliary dyskinesia, primary, 20
Reversed 1
HGVS NC_000019.9:g.48814809C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032838.3,