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rs1060500990

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060500990(A;A)
Make rs1060500990(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position48303645
GeneCCDC114
is asnp
is mentioned by
dbSNPrs1060500990
dbSNP (old)rs1060500990
ClinGenrs1060500990
ebirs1060500990
HLIrs1060500990
Exacrs1060500990
Gnomadrs1060500990
Varsomers1060500990
Maprs1060500990
PheGenIrs1060500990
Biobankrs1060500990
1000 genomesrs1060500990
hgdprs1060500990
ensemblrs1060500990
gopubmedrs1060500990
geneviewrs1060500990
scholarrs1060500990
googlers1060500990
pharmgkbrs1060500990
gwascentralrs1060500990
openSNPrs1060500990
23andMers1060500990
23andMe allrs1060500990
SNPshotrs1060500990
SNPdbers1060500990
MSV3drs1060500990
GWAS Ctlgrs1060500990
Max Magnitude0
ClinVar
Risk rs1060500990(A;A)
Alt rs1060500990(A;A)
Reference Rs1060500990(G;G)
Significance Probable-Pathogenic
Disease Primary ciliary dyskinesia
Variation info
Gene CCDC114
CLNDBN Primary ciliary dyskinesia
Reversed 1
HGVS NC_000019.9:g.48806902C>T
CLNSRC
CLNACC RCV000474496.1,