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rs606231165

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;CCAAGGTCTTCA) 3 Carrier of a primary ciliary dyskinesia mutation
(CACCAAGGTCTT;CACCAAGGTCTT) 0 common in clinvar
Make rs606231165(-;-)
Make rs606231165(CCAAGGTCTTCA;CCAAGGTCTTCA)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position34514482
GeneDNAI1
is asnp
is mentioned by
dbSNPrs606231165
dbSNP (classic)rs606231165
ClinGenrs606231165
ebirs606231165
HLIrs606231165
Exacrs606231165
Gnomadrs606231165
Varsomers606231165
LitVarrs606231165
Maprs606231165
PheGenIrs606231165
Biobankrs606231165
1000 genomesrs606231165
hgdprs606231165
ensemblrs606231165
geneviewrs606231165
scholarrs606231165
googlers606231165
pharmgkbrs606231165
gwascentralrs606231165
openSNPrs606231165
23andMers606231165
SNPshotrs606231165
SNPdbers606231165
MSV3drs606231165
GWAS Ctlgrs606231165
Max Magnitude3

aka c.1658_1669delCCAAGGTCTTCA

ClinVar
Risk rs606231165(-;-)
Alt rs606231165(-;-)
Reference Rs606231165(CACCAAGGTCTT;CACCAAGGTCTT)
Significance Pathogenic
Disease Kartagener syndrome
Variation info
Gene DNAI1
CLNDBN Kartagener syndrome
Reversed 0
HGVS NC_000009.11:g.34514480_34514491delCCAAGGTCTTCA
CLNSRC OMIM Allelic Variant
CLNACC RCV000005957.2,