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rs1060503495

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


Make rs1060503495(-;-)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position34485216
GeneDNAI1
is asnp
is mentioned by
dbSNPrs1060503495
dbSNP (old)rs1060503495
ClinGenrs1060503495
ebirs1060503495
HLIrs1060503495
Exacrs1060503495
Gnomadrs1060503495
Varsomers1060503495
Maprs1060503495
PheGenIrs1060503495
Biobankrs1060503495
1000 genomesrs1060503495
hgdprs1060503495
ensemblrs1060503495
gopubmedrs1060503495
geneviewrs1060503495
scholarrs1060503495
googlers1060503495
pharmgkbrs1060503495
gwascentralrs1060503495
openSNPrs1060503495
23andMers1060503495
23andMe allrs1060503495
SNPshotrs1060503495
SNPdbers1060503495
MSV3drs1060503495
GWAS Ctlgrs1060503495
Max Magnitude3

aka c.156delT (p.Asp53Thrfs)

ClinVar
Risk rs1060503495(-;-)
Alt rs1060503495(-;-)
Reference Rs1060503495(T;T)
Significance Pathogenic
Disease Primary ciliary dyskinesia
Variation info
Gene DNAI1
CLNDBN Primary ciliary dyskinesia
Reversed 0
HGVS NC_000009.11:g.34485214delT
CLNSRC
CLNACC RCV000466842.1,