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rs1057516892

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516892(-;-)
Make rs1057516892(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position54153257
GenePCDH15
is asnp
is mentioned by
dbSNPrs1057516892
dbSNP (old)rs1057516892
ClinGenrs1057516892
ebirs1057516892
HLIrs1057516892
Exacrs1057516892
Gnomadrs1057516892
Varsomers1057516892
Maprs1057516892
PheGenIrs1057516892
Biobankrs1057516892
1000 genomesrs1057516892
hgdprs1057516892
ensemblrs1057516892
gopubmedrs1057516892
geneviewrs1057516892
scholarrs1057516892
googlers1057516892
pharmgkbrs1057516892
gwascentralrs1057516892
openSNPrs1057516892
23andMers1057516892
23andMe allrs1057516892
SNPshotrs1057516892
SNPdbers1057516892
MSV3drs1057516892
GWAS Ctlgrs1057516892
Max Magnitude0
ClinVar
Risk rs1057516892(-;-)
Alt rs1057516892(-;-)
Reference Rs1057516892(G;G)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene PCDH15
CLNDBN Usher syndrome, type 1F
Reversed 1
HGVS NC_000010.10:g.55913017delC
CLNSRC
CLNACC RCV000410989.1,