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rs30168

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs30168(A;A)
Make rs30168(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position13718980
GeneDNAH5
is asnp
is mentioned by
dbSNPrs30168
ebirs30168
HLIrs30168
Exacrs30168
Varsomers30168
Maprs30168
PheGenIrs30168
hapmaprs30168
1000 genomesrs30168
hgdprs30168
ensemblrs30168
gopubmedrs30168
geneviewrs30168
scholarrs30168
googlers30168
pharmgkbrs30168
gwascentralrs30168
openSNPrs30168
23andMers30168
23andMe allrs30168
SNP Nexus

SNPshotrs30168
SNPdbers30168
MSV3drs30168
GWAS Ctlgrs30168
GMAF0.4421
Max Magnitude0
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene DNAH5
allele A
frequency 0.342
sift AFFECT FUNCTION
HuRef 1103654030867
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.



[PMID 19197363OA-icon.png] A genome-wide investigation of SNPs and CNVs in schizophrenia.


GET Evidence
DNAH5-A4134V
aa_change Ala4134Val
aa_change_short A4134V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.460773
summary



ClinVar
Risk rs30168(A;A)
Alt rs30168(A;A)
Reference rs30168(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene DNAH5
CLNDBN not specified
Reversed 0
HGVS NC_000005.9:g.13719089G>A
CLNSRC
CLNACC RCV000155503.1,