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rs1064792947

From SNPedia
Revision as of 14:32, 12 August 2017 by OrientalBot (talk | contribs) (set Chromosome=21;set position=42482620;set Gene_s=RSPH1;set Gene=RSPH1)
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Orientationminus
Stabilizedminus
Geno Mag Summary
(GTAAGTTGCGGAGCATG;GTAAGTTGCGGAGCATG) 0 common in clinvar
Chromosome21
Position42482620
GeneRSPH1
is asnp
is mentioned by
dbSNPrs1064792947
dbSNP (classic)rs1064792947
ClinGenrs1064792947
ebirs1064792947
HLIrs1064792947
Exacrs1064792947
Gnomadrs1064792947
Varsomers1064792947
LitVarrs1064792947
Maprs1064792947
PheGenIrs1064792947
Biobankrs1064792947
1000 genomesrs1064792947
hgdprs1064792947
ensemblrs1064792947
geneviewrs1064792947
scholarrs1064792947
googlers1064792947
pharmgkbrs1064792947
gwascentralrs1064792947
openSNPrs1064792947
23andMers1064792947
SNPshotrs1064792947
SNPdbers1064792947
MSV3drs1064792947
GWAS Ctlgrs1064792947
Max Magnitude0
ClinVar
Risk rs1064792947(-;-)
Alt rs1064792947(-;-)
Reference Rs1064792947(GTAAGTTGCGGAGCATG;GTAAGTTGCGGAGCATG)
Significance Pathogenic
Disease Primary ciliary dyskinesia
Variation info
Gene RSPH1
CLNDBN Primary ciliary dyskinesia
Reversed 1
HGVS NC_000021.8:g.43902730_43902746del17
CLNSRC
CLNACC RCV000462475.1,


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