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rs397517451

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397517451(-;-)
Make rs397517451(-;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position54664247
GenePCDH15
is asnp
is mentioned by
dbSNPrs397517451
ebirs397517451
HLIrs397517451
Exacrs397517451
Varsomers397517451
Maprs397517451
PheGenIrs397517451
hapmaprs397517451
1000 genomesrs397517451
hgdprs397517451
ensemblrs397517451
gopubmedrs397517451
geneviewrs397517451
scholarrs397517451
googlers397517451
pharmgkbrs397517451
gwascentralrs397517451
openSNPrs397517451
23andMers397517451
23andMe allrs397517451
SNP Nexus

SNPshotrs397517451
SNPdbers397517451
MSV3drs397517451
GWAS Ctlgrs397517451
Max Magnitude0
ClinVar
Risk rs397517451(;)
Alt rs397517451(;)
Reference rs397517451(T;T)
Significance Pathogenic
Disease Usher syndrome Usher syndrome
Variation info
Gene PCDH15
CLNDBN Usher syndrome, type 1F Usher syndrome, type 1
Reversed 1
HGVS NC_000010.10:g.56424007delA
CLNSRC ClinVar
CLNACC RCV000039705.2, RCV000219366.1,