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rs1057516472

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516472(A;A)
Make rs1057516472(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position53827533
GenePCDH15
is asnp
is mentioned by
dbSNPrs1057516472
dbSNP (old)rs1057516472
ClinGenrs1057516472
ebirs1057516472
HLIrs1057516472
Exacrs1057516472
Gnomadrs1057516472
Varsomers1057516472
Maprs1057516472
PheGenIrs1057516472
Biobankrs1057516472
1000 genomesrs1057516472
hgdprs1057516472
ensemblrs1057516472
gopubmedrs1057516472
geneviewrs1057516472
scholarrs1057516472
googlers1057516472
pharmgkbrs1057516472
gwascentralrs1057516472
openSNPrs1057516472
23andMers1057516472
23andMe allrs1057516472
SNPshotrs1057516472
SNPdbers1057516472
MSV3drs1057516472
GWAS Ctlgrs1057516472
Max Magnitude0
ClinVar
Risk rs1057516472(A;A)
Alt rs1057516472(A;A)
Reference Rs1057516472(T;T)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene PCDH15
CLNDBN Usher syndrome, type 1F
Reversed 1
HGVS NC_000010.10:g.55587293A>T
CLNSRC
CLNACC RCV000409923.1,