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rs769284314

From SNPedia

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


Make rs769284314(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome9
Position34506870
GeneDNAI1
is asnp
is mentioned by
dbSNPrs769284314
dbSNP (classic)rs769284314
ClinGenrs769284314
ebirs769284314
HLIrs769284314
Exacrs769284314
Gnomadrs769284314
Varsomers769284314
LitVarrs769284314
Maprs769284314
PheGenIrs769284314
Biobankrs769284314
1000 genomesrs769284314
hgdprs769284314
ensemblrs769284314
geneviewrs769284314
scholarrs769284314
googlers769284314
pharmgkbrs769284314
gwascentralrs769284314
openSNPrs769284314
23andMers769284314
SNPshotrs769284314
SNPdbers769284314
MSV3drs769284314
GWAS Ctlgrs769284314
Max Magnitude3

aka c.1307G>A (p.Trp436Ter)

ClinVar
Risk rs769284314(A;A)
Alt rs769284314(A;A)
Reference Rs769284314(G;G)
Significance Pathogenic
Disease Primary ciliary dyskinesia
Variation info
Gene DNAI1
CLNDBN Primary ciliary dyskinesia
Reversed 0
HGVS NC_000009.11:g.34506868G>A
CLNSRC
CLNACC RCV000228761.1,