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rs587777047

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587777047(A;C)
Make rs587777047(C;C)
ReferenceGRCh38 38.1/142
Chromosome10
Position27862453
GeneARMC4
is asnp
is mentioned by
dbSNPrs587777047
dbSNP (classic)rs587777047
ClinGenrs587777047
ebirs587777047
HLIrs587777047
Exacrs587777047
Gnomadrs587777047
Varsomers587777047
LitVarrs587777047
Maprs587777047
PheGenIrs587777047
Biobankrs587777047
1000 genomesrs587777047
hgdprs587777047
ensemblrs587777047
geneviewrs587777047
scholarrs587777047
googlers587777047
pharmgkbrs587777047
gwascentralrs587777047
openSNPrs587777047
23andMers587777047
SNPshotrs587777047
SNPdbers587777047
MSV3drs587777047
GWAS Ctlgrs587777047
Max Magnitude0
ClinVar
Risk Rs587777047(A;A) rs587777047(C;C)
Alt Rs587777047(A;A) rs587777047(C;C)
Reference Rs587777047(T;T)
Significance Pathogenic
Disease Primary ciliary dyskinesia 23 Kartagener syndrome
Variation info
Gene ARMC4
CLNDBN Primary ciliary dyskinesia 23 Kartagener syndrome
Reversed 1
HGVS NC_000010.10:g.28151382A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000056284.3, RCV000190922.1,