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rs1530498

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1530498(A;G)
Make rs1530498(G;G)
ReferenceGRCh38 38.1/142
Chromosome5
Position13902111
GeneDNAH5
is asnp
is mentioned by
dbSNPrs1530498
ClinGenrs1530498
ebirs1530498
HLIrs1530498
Exacrs1530498
Varsomers1530498
Maprs1530498
PheGenIrs1530498
hapmaprs1530498
1000 genomesrs1530498
hgdprs1530498
ensemblrs1530498
gopubmedrs1530498
geneviewrs1530498
scholarrs1530498
googlers1530498
pharmgkbrs1530498
gwascentralrs1530498
openSNPrs1530498
23andMers1530498
23andMe allrs1530498
SNP Nexus

SNPshotrs1530498
SNPdbers1530498
MSV3drs1530498
GWAS Ctlgrs1530498
GMAF0.4555
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene DNAH5
allele C
frequency 0.392
sift TOLERATED
HuRef 1103654031182
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-T558A
aa_change Thr558Ala
aa_change_short T558A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.330199
summary



ClinVar
Risk rs1530498(G;G)
Alt rs1530498(G;G)
Reference Rs1530498(A;A)
Significance Non-pathogenic
Disease not specified
Variation info
Gene DNAH5
CLNDBN not specified
Reversed 1
HGVS NC_000005.9:g.13902220T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000150488.2,