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rs200669099

From SNPedia

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


Make rs200669099(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome9
Position34514468
GeneDNAI1
is asnp
is mentioned by
dbSNPrs200669099
dbSNP (classic)rs200669099
ClinGenrs200669099
ebirs200669099
HLIrs200669099
Exacrs200669099
Gnomadrs200669099
Varsomers200669099
LitVarrs200669099
Maprs200669099
PheGenIrs200669099
Biobankrs200669099
1000 genomesrs200669099
hgdprs200669099
ensemblrs200669099
geneviewrs200669099
scholarrs200669099
googlers200669099
pharmgkbrs200669099
gwascentralrs200669099
openSNPrs200669099
23andMers200669099
SNPshotrs200669099
SNPdbers200669099
MSV3drs200669099
GWAS Ctlgrs200669099
Max Magnitude3

aka c.1644G>A (p.Trp548Ter)

ClinVar
Risk rs200669099(A;A)
Alt rs200669099(A;A)
Reference Rs200669099(G;G)
Significance Pathogenic
Disease Primary ciliary dyskinesia
Variation info
Gene DNAI1
CLNDBN Primary ciliary dyskinesia
Reversed 0
HGVS NC_000009.11:g.34514466G>A
CLNSRC
CLNACC RCV000231603.1,