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rs1060501719

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Make rs1060501719(ACCG;ACCG)
Make rs1060501719(ACCG;CA)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position80087748
GeneCCDC40
is asnp
is mentioned by
dbSNPrs1060501719
dbSNP (old)rs1060501719
ClinGenrs1060501719
ebirs1060501719
HLIrs1060501719
Exacrs1060501719
Gnomadrs1060501719
Varsomers1060501719
LitVarrs1060501719
Maprs1060501719
PheGenIrs1060501719
Biobankrs1060501719
1000 genomesrs1060501719
hgdprs1060501719
ensemblrs1060501719
gopubmedrs1060501719
geneviewrs1060501719
scholarrs1060501719
googlers1060501719
pharmgkbrs1060501719
gwascentralrs1060501719
openSNPrs1060501719
23andMers1060501719
23andMe allrs1060501719
SNPshotrs1060501719
SNPdbers1060501719
MSV3drs1060501719
GWAS Ctlgrs1060501719
Max Magnitude0
ClinVar
Risk rs1060501719(ACCG;ACCG)
Alt rs1060501719(ACCG;ACCG)
Reference Rs1060501719(CA;CA)
Significance Pathogenic
Disease Primary ciliary dyskinesia
Variation info
Gene CCDC40
CLNDBN Primary ciliary dyskinesia
Reversed 0
HGVS NC_000017.10:g.78061547_78061548delCAinsACCG
CLNSRC
CLNACC RCV000463298.1,