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rs1057517048

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517048(-;A)
Make rs1057517048(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position54236906
GenePCDH15
is asnp
is mentioned by
dbSNPrs1057517048
dbSNP (old)rs1057517048
ClinGenrs1057517048
ebirs1057517048
HLIrs1057517048
Exacrs1057517048
Gnomadrs1057517048
Varsomers1057517048
Maprs1057517048
PheGenIrs1057517048
Biobankrs1057517048
1000 genomesrs1057517048
hgdprs1057517048
ensemblrs1057517048
gopubmedrs1057517048
geneviewrs1057517048
scholarrs1057517048
googlers1057517048
pharmgkbrs1057517048
gwascentralrs1057517048
openSNPrs1057517048
23andMers1057517048
23andMe allrs1057517048
SNPshotrs1057517048
SNPdbers1057517048
MSV3drs1057517048
GWAS Ctlgrs1057517048
Max Magnitude0
ClinVar
Risk rs1057517048(A;A)
Alt rs1057517048(A;A)
Reference Rs1057517048(-;-)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene PCDH15
CLNDBN Usher syndrome, type 1F
Reversed 1
HGVS NC_000010.10:g.55996667dupT
CLNSRC
CLNACC RCV000410045.1,