Have questions? Visit https://www.reddit.com/r/SNPedia

rs397515392

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515392(C;C)
Make rs397515392(C;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position180661860
GeneCCDC39
is asnp
is mentioned by
dbSNPrs397515392
dbSNP (classic)rs397515392
ClinGenrs397515392
ebirs397515392
HLIrs397515392
Exacrs397515392
Gnomadrs397515392
Varsomers397515392
LitVarrs397515392
Maprs397515392
PheGenIrs397515392
Biobankrs397515392
1000 genomesrs397515392
hgdprs397515392
ensemblrs397515392
geneviewrs397515392
scholarrs397515392
googlers397515392
pharmgkbrs397515392
gwascentralrs397515392
openSNPrs397515392
23andMers397515392
SNPshotrs397515392
SNPdbers397515392
MSV3drs397515392
GWAS Ctlgrs397515392
Max Magnitude0
ClinVar
Risk rs397515392(C;C)
Alt rs397515392(C;C)
Reference Rs397515392(G;G)
Significance Pathogenic
Disease Ciliary dyskinesia Primary ciliary dyskinesia
Variation info
Gene CCDC39
CLNDBN Ciliary dyskinesia, primary, 14 Primary ciliary dyskinesia
Reversed 1
HGVS NC_000003.11:g.180379648C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000024061.3, RCV000199155.3,