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rs587777058

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777058(G;T)
Make rs587777058(T;T)
ReferenceGRCh38 38.1/142
Chromosome21
Position42485807
GeneRSPH1
is asnp
is mentioned by
dbSNPrs587777058
ebirs587777058
HLIrs587777058
Exacrs587777058
Varsomers587777058
Maprs587777058
PheGenIrs587777058
hapmaprs587777058
1000 genomesrs587777058
hgdprs587777058
ensemblrs587777058
gopubmedrs587777058
geneviewrs587777058
scholarrs587777058
googlers587777058
pharmgkbrs587777058
gwascentralrs587777058
openSNPrs587777058
23andMers587777058
23andMe allrs587777058
SNP Nexus

SNPshotrs587777058
SNPdbers587777058
MSV3drs587777058
GWAS Ctlgrs587777058
Max Magnitude0
ClinVar
Risk rs587777058(T;T)
Alt rs587777058(T;T)
Reference rs587777058(G;G)
Significance Pathogenic
Disease Primary ciliary dyskinesia 24 Kartagener syndrome
Variation info
Gene RSPH1
CLNDBN Primary ciliary dyskinesia 24 Kartagener syndrome
Reversed 0
HGVS NC_000021.8:g.43905917G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000057510.4, RCV000190926.1,