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rs587777635

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777635(C;T)
Make rs587777635(T;T)
ReferenceGRCh38 38.1/142
Chromosome21
Position42486455
GeneRSPH1
is asnp
is mentioned by
dbSNPrs587777635
ebirs587777635
HLIrs587777635
Exacrs587777635
Varsomers587777635
Maprs587777635
PheGenIrs587777635
hapmaprs587777635
1000 genomesrs587777635
hgdprs587777635
ensemblrs587777635
gopubmedrs587777635
geneviewrs587777635
scholarrs587777635
googlers587777635
pharmgkbrs587777635
gwascentralrs587777635
openSNPrs587777635
23andMers587777635
23andMe allrs587777635
SNP Nexus

SNPshotrs587777635
SNPdbers587777635
MSV3drs587777635
GWAS Ctlgrs587777635
Max Magnitude0
ClinVar
Risk rs587777635(T;T)
Alt rs587777635(T;T)
Reference rs587777635(C;C)
Significance Pathogenic
Disease Primary ciliary dyskinesia 24
Variation info
Gene RSPH1
CLNDBN Primary ciliary dyskinesia 24
Reversed 0
HGVS NC_000021.8:g.43906565C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000133520.2,