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rs1057516656

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516656(-;-)
Make rs1057516656(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position53938847
GenePCDH15
is asnp
is mentioned by
dbSNPrs1057516656
dbSNP (classic)rs1057516656
ClinGenrs1057516656
ebirs1057516656
HLIrs1057516656
Exacrs1057516656
Gnomadrs1057516656
Varsomers1057516656
LitVarrs1057516656
Maprs1057516656
PheGenIrs1057516656
Biobankrs1057516656
1000 genomesrs1057516656
hgdprs1057516656
ensemblrs1057516656
geneviewrs1057516656
scholarrs1057516656
googlers1057516656
pharmgkbrs1057516656
gwascentralrs1057516656
openSNPrs1057516656
23andMers1057516656
SNPshotrs1057516656
SNPdbers1057516656
MSV3drs1057516656
GWAS Ctlgrs1057516656
Max Magnitude0
ClinVar
Risk rs1057516656(-;-)
Alt rs1057516656(-;-)
Reference Rs1057516656(T;T)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene PCDH15
CLNDBN Usher syndrome, type 1F
Reversed 1
HGVS NC_000010.10:g.55698607delA
CLNSRC
CLNACC RCV000410850.1,