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rs1060503433

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060503433(C;T)
Make rs1060503433(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position44901113
GeneCCDC103, EFTUD2
is asnp
is mentioned by
dbSNPrs1060503433
dbSNP (old)rs1060503433
ClinGenrs1060503433
ebirs1060503433
HLIrs1060503433
Exacrs1060503433
Gnomadrs1060503433
Varsomers1060503433
Maprs1060503433
PheGenIrs1060503433
Biobankrs1060503433
1000 genomesrs1060503433
hgdprs1060503433
ensemblrs1060503433
gopubmedrs1060503433
geneviewrs1060503433
scholarrs1060503433
googlers1060503433
pharmgkbrs1060503433
gwascentralrs1060503433
openSNPrs1060503433
23andMers1060503433
23andMe allrs1060503433
SNPshotrs1060503433
SNPdbers1060503433
MSV3drs1060503433
GWAS Ctlgrs1060503433
Max Magnitude0
ClinVar
Risk rs1060503433(T;T)
Alt rs1060503433(T;T)
Reference Rs1060503433(C;C)
Significance Pathogenic
Disease Primary ciliary dyskinesia
Variation info
Gene CCDC103 EFTUD2
CLNDBN Primary ciliary dyskinesia
Reversed 0
HGVS NC_000017.10:g.42978481C>T
CLNSRC
CLNACC RCV000467115.1,