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rs138815960

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs138815960(A;C)
Make rs138815960(C;C)
ReferenceGRCh38 38.1/142
Chromosome3
Position50345533
GeneZMYND10
is asnp
is mentioned by
dbSNPrs138815960
dbSNP (classic)rs138815960
ClinGenrs138815960
ebirs138815960
HLIrs138815960
Exacrs138815960
Gnomadrs138815960
Varsomers138815960
LitVarrs138815960
Maprs138815960
PheGenIrs138815960
Biobankrs138815960
1000 genomesrs138815960
hgdprs138815960
ensemblrs138815960
geneviewrs138815960
scholarrs138815960
googlers138815960
pharmgkbrs138815960
gwascentralrs138815960
openSNPrs138815960
23andMers138815960
SNPshotrs138815960
SNPdbers138815960
MSV3drs138815960
GWAS Ctlgrs138815960
Max Magnitude0
ClinVar
Risk rs138815960(C;C)
Alt rs138815960(C;C)
Reference Rs138815960(A;A)
Significance Pathogenic
Disease Ciliary dyskinesia Kartagener syndrome Primary ciliary dyskinesia
Variation info
Gene ZMYND10
CLNDBN Ciliary dyskinesia, primary, 22 Kartagener syndrome Primary ciliary dyskinesia
Reversed 0
HGVS NC_000003.11:g.50382964A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000056264.3, RCV000190919.1, RCV000459281.1,