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rs727503394

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs727503394(G;G)
Make rs727503394(G;T)
ReferenceGRCh38.p2 38.2/144
Chromosome21
Position42482647
GeneRSPH1
is asnp
is mentioned by
dbSNPrs727503394
ebirs727503394
HLIrs727503394
Exacrs727503394
Varsomers727503394
Maprs727503394
PheGenIrs727503394
hapmaprs727503394
1000 genomesrs727503394
hgdprs727503394
ensemblrs727503394
gopubmedrs727503394
geneviewrs727503394
scholarrs727503394
googlers727503394
pharmgkbrs727503394
gwascentralrs727503394
openSNPrs727503394
23andMers727503394
23andMe allrs727503394
SNP Nexus

SNPshotrs727503394
SNPdbers727503394
MSV3drs727503394
GWAS Ctlgrs727503394
Max Magnitude0
ClinVar
Risk rs727503394(G;G)
Alt rs727503394(G;G)
Reference rs727503394(T;T)
Significance Probable-Pathogenic
Disease Primary ciliary dyskinesia
Variation info
Gene RSPH1
CLNDBN Primary ciliary dyskinesia
Reversed 1
HGVS NC_000021.8:g.43902757A>C
CLNSRC
CLNACC RCV000151743.1,