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rs1057517419

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517419(-;T)
Make rs1057517419(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position53828562
GenePCDH15
is asnp
is mentioned by
dbSNPrs1057517419
dbSNP (old)rs1057517419
ClinGenrs1057517419
ebirs1057517419
HLIrs1057517419
Exacrs1057517419
Gnomadrs1057517419
Varsomers1057517419
Maprs1057517419
PheGenIrs1057517419
Biobankrs1057517419
1000 genomesrs1057517419
hgdprs1057517419
ensemblrs1057517419
gopubmedrs1057517419
geneviewrs1057517419
scholarrs1057517419
googlers1057517419
pharmgkbrs1057517419
gwascentralrs1057517419
openSNPrs1057517419
23andMers1057517419
23andMe allrs1057517419
SNPshotrs1057517419
SNPdbers1057517419
MSV3drs1057517419
GWAS Ctlgrs1057517419
Max Magnitude0
ClinVar
Risk rs1057517419(T;T)
Alt rs1057517419(T;T)
Reference Rs1057517419(-;-)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene PCDH15
CLNDBN Usher syndrome, type 1F
Reversed 1
HGVS NC_000010.10:g.55588323dupA
CLNSRC
CLNACC RCV000412235.1,