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rs1057519569

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519569(C;T)
Make rs1057519569(T;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position107222767
GenePIH1D3
is asnp
is mentioned by
dbSNPrs1057519569
dbSNP (old)rs1057519569
ClinGenrs1057519569
ebirs1057519569
HLIrs1057519569
Exacrs1057519569
Gnomadrs1057519569
Varsomers1057519569
Maprs1057519569
PheGenIrs1057519569
Biobankrs1057519569
1000 genomesrs1057519569
hgdprs1057519569
ensemblrs1057519569
gopubmedrs1057519569
geneviewrs1057519569
scholarrs1057519569
googlers1057519569
pharmgkbrs1057519569
gwascentralrs1057519569
openSNPrs1057519569
23andMers1057519569
23andMe allrs1057519569
SNPshotrs1057519569
SNPdbers1057519569
MSV3drs1057519569
GWAS Ctlgrs1057519569
Max Magnitude0
ClinVar
Risk rs1057519569(T;T)
Alt rs1057519569(T;T)
Reference Rs1057519569(C;C)
Significance Pathogenic
Disease Ciliary dyskinesia
Variation info
Gene PIH1D3
CLNDBN Ciliary dyskinesia, primary, 36, X-linked
Reversed 0
HGVS NC_000023.10:g.106465997C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000417045.1,