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rs1057516351

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516351(-;-)
Make rs1057516351(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position53827447
GenePCDH15
is asnp
is mentioned by
dbSNPrs1057516351
dbSNP (old)rs1057516351
ClinGenrs1057516351
ebirs1057516351
HLIrs1057516351
Exacrs1057516351
Gnomadrs1057516351
Varsomers1057516351
Maprs1057516351
PheGenIrs1057516351
Biobankrs1057516351
1000 genomesrs1057516351
hgdprs1057516351
ensemblrs1057516351
gopubmedrs1057516351
geneviewrs1057516351
scholarrs1057516351
googlers1057516351
pharmgkbrs1057516351
gwascentralrs1057516351
openSNPrs1057516351
23andMers1057516351
23andMe allrs1057516351
SNPshotrs1057516351
SNPdbers1057516351
MSV3drs1057516351
GWAS Ctlgrs1057516351
Max Magnitude0
ClinVar
Risk rs1057516351(-;-)
Alt rs1057516351(-;-)
Reference Rs1057516351(C;C)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene PCDH15
CLNDBN Usher syndrome, type 1F
Reversed 1
HGVS NC_000010.10:g.55587207delG
CLNSRC
CLNACC RCV000411267.1,