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rs397518456

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397518456(-;-)
Make rs397518456(-;A)
ReferenceGRCh38 38.1/141
Chromosome6
Position116627977
GeneRSPH4A
is asnp
is mentioned by
dbSNPrs397518456
ebirs397518456
HLIrs397518456
Exacrs397518456
Varsomers397518456
Maprs397518456
PheGenIrs397518456
hapmaprs397518456
1000 genomesrs397518456
hgdprs397518456
ensemblrs397518456
gopubmedrs397518456
geneviewrs397518456
scholarrs397518456
googlers397518456
pharmgkbrs397518456
gwascentralrs397518456
openSNPrs397518456
23andMers397518456
23andMe allrs397518456
SNP Nexus

SNPshotrs397518456
SNPdbers397518456
MSV3drs397518456
GWAS Ctlgrs397518456
Max Magnitude0
ClinVar
Risk rs397518456(;)
Alt rs397518456(;)
Reference rs397518456(A;A)
Significance Pathogenic
Disease Ciliary dyskinesia
Variation info
Gene RSPH4A
CLNDBN Ciliary dyskinesia, primary, 11
Reversed 0
HGVS NC_000006.11:g.116949140delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000057515.4,