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rs397514596

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514596(C;C)
Make rs397514596(C;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position132656866
GeneLRRC6
is asnp
is mentioned by
dbSNPrs397514596
ebirs397514596
HLIrs397514596
Exacrs397514596
Varsomers397514596
Maprs397514596
PheGenIrs397514596
hapmaprs397514596
1000 genomesrs397514596
hgdprs397514596
ensemblrs397514596
gopubmedrs397514596
geneviewrs397514596
scholarrs397514596
googlers397514596
pharmgkbrs397514596
gwascentralrs397514596
openSNPrs397514596
23andMers397514596
23andMe allrs397514596
SNP Nexus

SNPshotrs397514596
SNPdbers397514596
MSV3drs397514596
GWAS Ctlgrs397514596
Max Magnitude0
ClinVar
Risk rs397514596(C;C)
Alt rs397514596(C;C)
Reference rs397514596(G;G)
Significance Pathogenic
Disease Ciliary dyskinesia
Variation info
Gene LRRC6
CLNDBN Ciliary dyskinesia, primary, 19
Reversed 1
HGVS NC_000008.10:g.133669112C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000033019.4,