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rs339445

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(C;C) 0 common in complete genomics
Make rs339445(A;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position13944403
GeneDNAH5
is asnp
is mentioned by
dbSNPrs339445
ebirs339445
HLIrs339445
Exacrs339445
Varsomers339445
Maprs339445
PheGenIrs339445
hapmaprs339445
1000 genomesrs339445
hgdprs339445
ensemblrs339445
gopubmedrs339445
geneviewrs339445
scholarrs339445
googlers339445
pharmgkbrs339445
gwascentralrs339445
openSNPrs339445
23andMers339445
23andMe allrs339445
SNP Nexus

SNPshotrs339445
SNPdbers339445
MSV3drs339445
GWAS Ctlgrs339445
GMAF0.08494
Max Magnitude0
? (A;A) (A;C) (C;C) 28


Venter snp
Source plos
Gene DNAH5
allele C
frequency 0.915
sift
HuRef 1103654031278
Disease Association Defects in DNAH5 are the cause of primary ciliary dyskinesia 3 (CILD3) (MIM:608644). CILD3 is characterized by axonemal abnormalities of respiratory cilia and sperm tails leading to bronchiectasis and sinusitis, which are sometimes associated with situs inversus (Kartagener syndrome) and male sterility.



GET Evidence
DNAH5-H12Q
aa_change His12Gln
aa_change_short H12Q
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.924057
summary



ClinVar
Risk rs339445(C;C)
Alt rs339445(C;C)
Reference rs339445(A;A)
Significance Non-pathogenic
Disease not specified
Variation info
Gene DNAH5
CLNDBN not specified
Reversed 0
HGVS NC_000005.9:g.13944512A>C
CLNSRC
CLNACC RCV000155520.1,