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rs1057516268

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516268(-;-)
Make rs1057516268(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position53866706
GenePCDH15
is asnp
is mentioned by
dbSNPrs1057516268
dbSNP (old)rs1057516268
ClinGenrs1057516268
ebirs1057516268
HLIrs1057516268
Exacrs1057516268
Gnomadrs1057516268
Varsomers1057516268
Maprs1057516268
PheGenIrs1057516268
Biobankrs1057516268
1000 genomesrs1057516268
hgdprs1057516268
ensemblrs1057516268
gopubmedrs1057516268
geneviewrs1057516268
scholarrs1057516268
googlers1057516268
pharmgkbrs1057516268
gwascentralrs1057516268
openSNPrs1057516268
23andMers1057516268
23andMe allrs1057516268
SNPshotrs1057516268
SNPdbers1057516268
MSV3drs1057516268
GWAS Ctlgrs1057516268
Max Magnitude0
ClinVar
Risk rs1057516268(-;-)
Alt rs1057516268(-;-)
Reference Rs1057516268(T;T)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene PCDH15
CLNDBN Usher syndrome, type 1F
Reversed 1
HGVS NC_000010.10:g.55626466delA
CLNSRC
CLNACC RCV000411967.1,