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rs376252276

From SNPedia

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


Make rs376252276(A;A)
ReferenceGRCh38 38.1/141
Chromosome9
Position34513112
GeneDNAI1
is asnp
is mentioned by
dbSNPrs376252276
dbSNP (classic)rs376252276
ClinGenrs376252276
ebirs376252276
HLIrs376252276
Exacrs376252276
Gnomadrs376252276
Varsomers376252276
LitVarrs376252276
Maprs376252276
PheGenIrs376252276
Biobankrs376252276
1000 genomesrs376252276
hgdprs376252276
ensemblrs376252276
geneviewrs376252276
scholarrs376252276
googlers376252276
pharmgkbrs376252276
gwascentralrs376252276
openSNPrs376252276
23andMers376252276
SNPshotrs376252276
SNPdbers376252276
MSV3drs376252276
GWAS Ctlgrs376252276
Max Magnitude3

aka c.1490G>A (p.Gly497Asp)

ClinVar
Risk rs376252276(A;A) rs376252276(T;T)
Alt rs376252276(A;A) rs376252276(T;T)
Reference Rs376252276(G;G)
Significance Pathogenic
Disease Kartagener syndrome
Variation info
Gene DNAI1
CLNDBN Kartagener syndrome
Reversed 0
HGVS NC_000009.11:g.34513110G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000055932.2,