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rs1057517264

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Make rs1057517264(-;-)
Make rs1057517264(-;TG)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position54369235
GenePCDH15
is asnp
is mentioned by
dbSNPrs1057517264
dbSNP (old)rs1057517264
ClinGenrs1057517264
ebirs1057517264
HLIrs1057517264
Exacrs1057517264
Gnomadrs1057517264
Varsomers1057517264
Maprs1057517264
PheGenIrs1057517264
Biobankrs1057517264
1000 genomesrs1057517264
hgdprs1057517264
ensemblrs1057517264
gopubmedrs1057517264
geneviewrs1057517264
scholarrs1057517264
googlers1057517264
pharmgkbrs1057517264
gwascentralrs1057517264
openSNPrs1057517264
23andMers1057517264
23andMe allrs1057517264
SNPshotrs1057517264
SNPdbers1057517264
MSV3drs1057517264
GWAS Ctlgrs1057517264
Max Magnitude0
ClinVar
Risk rs1057517264(-;-)
Alt rs1057517264(-;-)
Reference Rs1057517264(TG;TG)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene PCDH15
CLNDBN Usher syndrome, type 1F
Reversed 1
HGVS NC_000010.10:g.56128995_56128996delCA
CLNSRC
CLNACC RCV000411639.1,