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rs1057517284

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517284(-;-)
Make rs1057517284(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position53959831
GenePCDH15
is asnp
is mentioned by
dbSNPrs1057517284
dbSNP (classic)rs1057517284
ClinGenrs1057517284
ebirs1057517284
HLIrs1057517284
Exacrs1057517284
Gnomadrs1057517284
Varsomers1057517284
LitVarrs1057517284
Maprs1057517284
PheGenIrs1057517284
Biobankrs1057517284
1000 genomesrs1057517284
hgdprs1057517284
ensemblrs1057517284
geneviewrs1057517284
scholarrs1057517284
googlers1057517284
pharmgkbrs1057517284
gwascentralrs1057517284
openSNPrs1057517284
23andMers1057517284
SNPshotrs1057517284
SNPdbers1057517284
MSV3drs1057517284
GWAS Ctlgrs1057517284
Max Magnitude0
ClinVar
Risk rs1057517284(-;-)
Alt rs1057517284(-;-)
Reference Rs1057517284(C;C)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene PCDH15
CLNDBN Usher syndrome, type 1F
Reversed 1
HGVS NC_000010.10:g.55719591delG
CLNSRC
CLNACC RCV000409420.1,