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rs756235547

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs756235547(C;C)
Make rs756235547(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position180659582
GeneCCDC39
is asnp
is mentioned by
dbSNPrs756235547
dbSNP (classic)rs756235547
ClinGenrs756235547
ebirs756235547
HLIrs756235547
Exacrs756235547
Gnomadrs756235547
Varsomers756235547
LitVarrs756235547
Maprs756235547
PheGenIrs756235547
Biobankrs756235547
1000 genomesrs756235547
hgdprs756235547
ensemblrs756235547
geneviewrs756235547
scholarrs756235547
googlers756235547
pharmgkbrs756235547
gwascentralrs756235547
openSNPrs756235547
23andMers756235547
SNPshotrs756235547
SNPdbers756235547
MSV3drs756235547
GWAS Ctlgrs756235547
Max Magnitude0
ClinVar
Risk rs756235547(C;C)
Alt rs756235547(C;C)
Reference Rs756235547(T;T)
Significance Pathogenic
Disease Primary ciliary dyskinesia
Variation info
Gene CCDC39
CLNDBN Primary ciliary dyskinesia
Reversed 0
HGVS NC_000003.11:g.180377370T>C
CLNSRC
CLNACC RCV000200347.4,