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rs1057516470

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516470(G;T)
Make rs1057516470(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position54346364
GenePCDH15
is asnp
is mentioned by
dbSNPrs1057516470
dbSNP (old)rs1057516470
ClinGenrs1057516470
ebirs1057516470
HLIrs1057516470
Exacrs1057516470
Gnomadrs1057516470
Varsomers1057516470
Maprs1057516470
PheGenIrs1057516470
Biobankrs1057516470
1000 genomesrs1057516470
hgdprs1057516470
ensemblrs1057516470
gopubmedrs1057516470
geneviewrs1057516470
scholarrs1057516470
googlers1057516470
pharmgkbrs1057516470
gwascentralrs1057516470
openSNPrs1057516470
23andMers1057516470
23andMe allrs1057516470
SNPshotrs1057516470
SNPdbers1057516470
MSV3drs1057516470
GWAS Ctlgrs1057516470
Max Magnitude0
ClinVar
Risk rs1057516470(T;T)
Alt rs1057516470(T;T)
Reference Rs1057516470(G;G)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene PCDH15
CLNDBN Usher syndrome, type 1F
Reversed 1
HGVS NC_000010.10:g.56106124C>A
CLNSRC
CLNACC RCV000411154.1,