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rs1057516342

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516342(C;T)
Make rs1057516342(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position53995732
GenePCDH15
is asnp
is mentioned by
dbSNPrs1057516342
dbSNP (old)rs1057516342
ClinGenrs1057516342
ebirs1057516342
HLIrs1057516342
Exacrs1057516342
Gnomadrs1057516342
Varsomers1057516342
Maprs1057516342
PheGenIrs1057516342
Biobankrs1057516342
1000 genomesrs1057516342
hgdprs1057516342
ensemblrs1057516342
gopubmedrs1057516342
geneviewrs1057516342
scholarrs1057516342
googlers1057516342
pharmgkbrs1057516342
gwascentralrs1057516342
openSNPrs1057516342
23andMers1057516342
23andMe allrs1057516342
SNPshotrs1057516342
SNPdbers1057516342
MSV3drs1057516342
GWAS Ctlgrs1057516342
Max Magnitude0
ClinVar
Risk rs1057516342(T;T)
Alt rs1057516342(T;T)
Reference Rs1057516342(C;C)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene PCDH15
CLNDBN Usher syndrome, type 1F
Reversed 1
HGVS NC_000010.10:g.55755492G>A
CLNSRC
CLNACC RCV000412338.1,