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rs397517452

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397517452(A;G)
Make rs397517452(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position54079426
GenePCDH15
is asnp
is mentioned by
dbSNPrs397517452
ebirs397517452
HLIrs397517452
Exacrs397517452
Varsomers397517452
Maprs397517452
PheGenIrs397517452
hapmaprs397517452
1000 genomesrs397517452
hgdprs397517452
ensemblrs397517452
gopubmedrs397517452
geneviewrs397517452
scholarrs397517452
googlers397517452
pharmgkbrs397517452
gwascentralrs397517452
openSNPrs397517452
23andMers397517452
23andMe allrs397517452
SNP Nexus

SNPshotrs397517452
SNPdbers397517452
MSV3drs397517452
GWAS Ctlgrs397517452
Max Magnitude0
ClinVar
Risk rs397517452(G;G)
Alt rs397517452(G;G)
Reference rs397517452(A;A)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene PCDH15
CLNDBN Usher syndrome, type 1F
Reversed 1
HGVS NC_000010.10:g.55839186T>C
CLNSRC ClinVar
CLNACC RCV000039708.2,