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rs1057517443

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517443(G;G)
Make rs1057517443(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position54132986
GenePCDH15
is asnp
is mentioned by
dbSNPrs1057517443
dbSNP (old)rs1057517443
ClinGenrs1057517443
ebirs1057517443
HLIrs1057517443
Exacrs1057517443
Gnomadrs1057517443
Varsomers1057517443
Maprs1057517443
PheGenIrs1057517443
Biobankrs1057517443
1000 genomesrs1057517443
hgdprs1057517443
ensemblrs1057517443
gopubmedrs1057517443
geneviewrs1057517443
scholarrs1057517443
googlers1057517443
pharmgkbrs1057517443
gwascentralrs1057517443
openSNPrs1057517443
23andMers1057517443
23andMe allrs1057517443
SNPshotrs1057517443
SNPdbers1057517443
MSV3drs1057517443
GWAS Ctlgrs1057517443
Max Magnitude0
ClinVar
Risk rs1057517443(G;G)
Alt rs1057517443(G;G)
Reference Rs1057517443(T;T)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene PCDH15
CLNDBN Usher syndrome, type 1F
Reversed 1
HGVS NC_000010.10:g.55892746A>C
CLNSRC
CLNACC RCV000410816.1,