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rs1057516780

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516780(-;AGATG)
Make rs1057516780(AGATG;AGATG)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position53840413
GenePCDH15
is asnp
is mentioned by
dbSNPrs1057516780
dbSNP (classic)rs1057516780
ClinGenrs1057516780
ebirs1057516780
HLIrs1057516780
Exacrs1057516780
Gnomadrs1057516780
Varsomers1057516780
LitVarrs1057516780
Maprs1057516780
PheGenIrs1057516780
Biobankrs1057516780
1000 genomesrs1057516780
hgdprs1057516780
ensemblrs1057516780
geneviewrs1057516780
scholarrs1057516780
googlers1057516780
pharmgkbrs1057516780
gwascentralrs1057516780
openSNPrs1057516780
23andMers1057516780
23andMe allrs1057516780
SNPshotrs1057516780
SNPdbers1057516780
MSV3drs1057516780
GWAS Ctlgrs1057516780
Max Magnitude0
ClinVar
Risk rs1057516780(AGATG;AGATG)
Alt rs1057516780(AGATG;AGATG)
Reference Rs1057516780(-;-)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene PCDH15
CLNDBN Usher syndrome, type 1F
Reversed 1
HGVS NC_000010.10:g.55600174_55600178dupCATCT
CLNSRC
CLNACC RCV000410014.1,