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rs1060503095

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TCC;TCC) 0 common in clinvar
Make rs1060503095(CT;CT)
Make rs1060503095(CT;TCC)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position55497816
GeneDNAAF4, DNAAF4-CCPG1
is asnp
is mentioned by
dbSNPrs1060503095
dbSNP (classic)rs1060503095
ClinGenrs1060503095
ebirs1060503095
HLIrs1060503095
Exacrs1060503095
Gnomadrs1060503095
Varsomers1060503095
LitVarrs1060503095
Maprs1060503095
PheGenIrs1060503095
Biobankrs1060503095
1000 genomesrs1060503095
hgdprs1060503095
ensemblrs1060503095
geneviewrs1060503095
scholarrs1060503095
googlers1060503095
pharmgkbrs1060503095
gwascentralrs1060503095
openSNPrs1060503095
23andMers1060503095
SNPshotrs1060503095
SNPdbers1060503095
MSV3drs1060503095
GWAS Ctlgrs1060503095
Max Magnitude0
ClinVar
Risk rs1060503095(CT;CT)
Alt rs1060503095(CT;CT)
Reference Rs1060503095(TCC;TCC)
Significance Pathogenic
Disease Primary ciliary dyskinesia
Variation info
Gene DYX1C1 DNAAF4 DNAAF4-CCPG1
CLNDBN Primary ciliary dyskinesia
Reversed 1
HGVS NC_000015.9:g.55790014_55790016delGGAinsAG
CLNSRC
CLNACC RCV000460798.1,