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rs1057516557

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516557(A;T)
Make rs1057516557(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position53823360
GenePCDH15
is asnp
is mentioned by
dbSNPrs1057516557
dbSNP (old)rs1057516557
ClinGenrs1057516557
ebirs1057516557
HLIrs1057516557
Exacrs1057516557
Gnomadrs1057516557
Varsomers1057516557
Maprs1057516557
PheGenIrs1057516557
Biobankrs1057516557
1000 genomesrs1057516557
hgdprs1057516557
ensemblrs1057516557
gopubmedrs1057516557
geneviewrs1057516557
scholarrs1057516557
googlers1057516557
pharmgkbrs1057516557
gwascentralrs1057516557
openSNPrs1057516557
23andMers1057516557
23andMe allrs1057516557
SNPshotrs1057516557
SNPdbers1057516557
MSV3drs1057516557
GWAS Ctlgrs1057516557
Max Magnitude0
ClinVar
Risk rs1057516557(T;T)
Alt rs1057516557(T;T)
Reference Rs1057516557(A;A)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene PCDH15
CLNDBN Usher syndrome, type 1F
Reversed 1
HGVS NC_000010.10:g.55583120T>A
CLNSRC
CLNACC RCV000410459.1,