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rs1057516613

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516613(A;A)
Make rs1057516613(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position53827392
GenePCDH15
is asnp
is mentioned by
dbSNPrs1057516613
dbSNP (old)rs1057516613
ClinGenrs1057516613
ebirs1057516613
HLIrs1057516613
Exacrs1057516613
Gnomadrs1057516613
Varsomers1057516613
Maprs1057516613
PheGenIrs1057516613
Biobankrs1057516613
1000 genomesrs1057516613
hgdprs1057516613
ensemblrs1057516613
gopubmedrs1057516613
geneviewrs1057516613
scholarrs1057516613
googlers1057516613
pharmgkbrs1057516613
gwascentralrs1057516613
openSNPrs1057516613
23andMers1057516613
23andMe allrs1057516613
SNPshotrs1057516613
SNPdbers1057516613
MSV3drs1057516613
GWAS Ctlgrs1057516613
Max Magnitude0
ClinVar
Risk rs1057516613(A;A)
Alt rs1057516613(A;A)
Reference Rs1057516613(G;G)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene PCDH15
CLNDBN Usher syndrome, type 1F
Reversed 1
HGVS NC_000010.10:g.55587152C>T
CLNSRC
CLNACC RCV000410301.1,