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rs1057517325

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517325(-;-)
Make rs1057517325(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position53959772
GenePCDH15
is asnp
is mentioned by
dbSNPrs1057517325
dbSNP (old)rs1057517325
ClinGenrs1057517325
ebirs1057517325
HLIrs1057517325
Exacrs1057517325
Gnomadrs1057517325
Varsomers1057517325
Maprs1057517325
PheGenIrs1057517325
Biobankrs1057517325
1000 genomesrs1057517325
hgdprs1057517325
ensemblrs1057517325
gopubmedrs1057517325
geneviewrs1057517325
scholarrs1057517325
googlers1057517325
pharmgkbrs1057517325
gwascentralrs1057517325
openSNPrs1057517325
23andMers1057517325
23andMe allrs1057517325
SNPshotrs1057517325
SNPdbers1057517325
MSV3drs1057517325
GWAS Ctlgrs1057517325
Max Magnitude0
ClinVar
Risk rs1057517325(-;-)
Alt rs1057517325(-;-)
Reference Rs1057517325(C;C)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene PCDH15
CLNDBN Usher syndrome, type 1F
Reversed 1
HGVS NC_000010.10:g.55719532delG
CLNSRC
CLNACC RCV000409970.1,