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rs1057516474

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516474(A;C)
Make rs1057516474(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position54133009
GenePCDH15
is asnp
is mentioned by
dbSNPrs1057516474
dbSNP (old)rs1057516474
ClinGenrs1057516474
ebirs1057516474
HLIrs1057516474
Exacrs1057516474
Gnomadrs1057516474
Varsomers1057516474
Maprs1057516474
PheGenIrs1057516474
Biobankrs1057516474
1000 genomesrs1057516474
hgdprs1057516474
ensemblrs1057516474
gopubmedrs1057516474
geneviewrs1057516474
scholarrs1057516474
googlers1057516474
pharmgkbrs1057516474
gwascentralrs1057516474
openSNPrs1057516474
23andMers1057516474
23andMe allrs1057516474
SNPshotrs1057516474
SNPdbers1057516474
MSV3drs1057516474
GWAS Ctlgrs1057516474
Max Magnitude0
ClinVar
Risk rs1057516474(C;C)
Alt rs1057516474(C;C)
Reference Rs1057516474(A;A)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene PCDH15
CLNDBN Usher syndrome, type 1F
Reversed 1
HGVS NC_000010.10:g.55892769T>G
CLNSRC
CLNACC RCV000410583.1,