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rs876657683

From SNPedia

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


Make rs876657683(-;-)
ReferenceGRCh38.p2 38.2/147
Chromosome9
Position34489397
GeneDNAI1
is asnp
is mentioned by
dbSNPrs876657683
dbSNP (classic)rs876657683
ClinGenrs876657683
ebirs876657683
HLIrs876657683
Exacrs876657683
Gnomadrs876657683
Varsomers876657683
LitVarrs876657683
Maprs876657683
PheGenIrs876657683
Biobankrs876657683
1000 genomesrs876657683
hgdprs876657683
ensemblrs876657683
geneviewrs876657683
scholarrs876657683
googlers876657683
pharmgkbrs876657683
gwascentralrs876657683
openSNPrs876657683
23andMers876657683
SNPshotrs876657683
SNPdbers876657683
MSV3drs876657683
GWAS Ctlgrs876657683
Max Magnitude3

aka c.336delC (p.Asp114Thrfs)

ClinVar
Risk rs876657683(-;-)
Alt rs876657683(-;-)
Reference Rs876657683(C;C)
Significance Pathogenic
Disease Primary ciliary dyskinesia
Variation info
Gene DNAI1
CLNDBN Primary ciliary dyskinesia
Reversed 0
HGVS NC_000009.11:g.34489395delC
CLNSRC
CLNACC RCV000216627.1,