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rs397514561

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514561(C;C)
Make rs397514561(C;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position780097
GeneHEATR2
is asnp
is mentioned by
dbSNPrs397514561
ebirs397514561
HLIrs397514561
Exacrs397514561
Varsomers397514561
Maprs397514561
PheGenIrs397514561
hapmaprs397514561
1000 genomesrs397514561
hgdprs397514561
ensemblrs397514561
gopubmedrs397514561
geneviewrs397514561
scholarrs397514561
googlers397514561
pharmgkbrs397514561
gwascentralrs397514561
openSNPrs397514561
23andMers397514561
23andMe allrs397514561
SNP Nexus

SNPshotrs397514561
SNPdbers397514561
MSV3drs397514561
GWAS Ctlgrs397514561
Max Magnitude0
ClinVar
Risk rs397514561(C;C)
Alt rs397514561(C;C)
Reference rs397514561(T;T)
Significance Pathogenic
Disease Ciliary dyskinesia
Variation info
Gene DNAAF5
CLNDBN Ciliary dyskinesia, primary, 18
Reversed 0
HGVS NC_000007.13:g.819734T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000032886.3,