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rs1060503515

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;C) 3 Carrier of a primary ciliary dyskinesia mutation
(C;C) 0 common in clinvar


Make rs1060503515(-;-)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position34506751
GeneDNAI1
is asnp
is mentioned by
dbSNPrs1060503515
dbSNP (old)rs1060503515
ClinGenrs1060503515
ebirs1060503515
HLIrs1060503515
Exacrs1060503515
Gnomadrs1060503515
Varsomers1060503515
Maprs1060503515
PheGenIrs1060503515
Biobankrs1060503515
1000 genomesrs1060503515
hgdprs1060503515
ensemblrs1060503515
gopubmedrs1060503515
geneviewrs1060503515
scholarrs1060503515
googlers1060503515
pharmgkbrs1060503515
gwascentralrs1060503515
openSNPrs1060503515
23andMers1060503515
23andMe allrs1060503515
SNPshotrs1060503515
SNPdbers1060503515
MSV3drs1060503515
GWAS Ctlgrs1060503515
Max Magnitude3

aka c.1188delC (p.Tyr397Thrfs)

ClinVar
Risk rs1060503515(-;-)
Alt rs1060503515(-;-)
Reference Rs1060503515(C;C)
Significance Pathogenic
Disease Primary ciliary dyskinesia
Variation info
Gene DNAI1
CLNDBN Primary ciliary dyskinesia
Reversed 0
HGVS NC_000009.11:g.34506749delC
CLNSRC
CLNACC RCV000473781.1,