Have questions? Visit https://www.reddit.com/r/SNPedia

rs878854968

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 3 Carrier of a primary ciliary dyskinesia mutation
Make rs878854968(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome9
Position34500732
GeneDNAI1
is asnp
is mentioned by
dbSNPrs878854968
dbSNP (classic)rs878854968
ClinGenrs878854968
ebirs878854968
HLIrs878854968
Exacrs878854968
Gnomadrs878854968
Varsomers878854968
LitVarrs878854968
Maprs878854968
PheGenIrs878854968
Biobankrs878854968
1000 genomesrs878854968
hgdprs878854968
ensemblrs878854968
geneviewrs878854968
scholarrs878854968
googlers878854968
pharmgkbrs878854968
gwascentralrs878854968
openSNPrs878854968
23andMers878854968
SNPshotrs878854968
SNPdbers878854968
MSV3drs878854968
GWAS Ctlgrs878854968
Max Magnitude3

c.912C>G (p.Tyr304Ter)

ClinVar
Risk rs878854968(G;G)
Alt rs878854968(G;G)
Reference Rs878854968(C;C)
Significance Pathogenic
Disease Primary ciliary dyskinesia
Variation info
Gene DNAI1
CLNDBN Primary ciliary dyskinesia
Reversed 0
HGVS NC_000009.11:g.34500730C>G
CLNSRC
CLNACC RCV000232560.1,