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rs3734110

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(C;T) 0
Make rs3734110(A;G)
Make rs3734110(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position13701427
GeneDNAH5
is asnp
is mentioned by
dbSNPrs3734110
ebirs3734110
HLIrs3734110
Exacrs3734110
Varsomers3734110
Maprs3734110
PheGenIrs3734110
hapmaprs3734110
1000 genomesrs3734110
hgdprs3734110
ensemblrs3734110
gopubmedrs3734110
geneviewrs3734110
scholarrs3734110
googlers3734110
pharmgkbrs3734110
gwascentralrs3734110
openSNPrs3734110
23andMers3734110
23andMe allrs3734110
SNP Nexus

SNPshotrs3734110
SNPdbers3734110
MSV3drs3734110
GWAS Ctlgrs3734110
GMAF0.4913
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene DNAH5
allele C
frequency 0.467
sift TOLERATED
HuRef 1103654030817
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-I4450V
aa_change Ile4450Val
aa_change_short I4450V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.528165
summary



ClinVar
Risk rs3734110(G;G)
Alt rs3734110(G;G)
Reference rs3734110(A;A)
Significance Non-pathogenic
Disease not specified
Variation info
Gene DNAH5
CLNDBN not specified
Reversed 1
HGVS NC_000005.9:g.13701536T>C
CLNSRC
CLNACC RCV000150463.1,