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rs1057516770

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516770(C;C)
Make rs1057516770(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position54527811
GeneLOC105378311, PCDH15
is asnp
is mentioned by
dbSNPrs1057516770
dbSNP (classic)rs1057516770
ClinGenrs1057516770
ebirs1057516770
HLIrs1057516770
Exacrs1057516770
Gnomadrs1057516770
Varsomers1057516770
LitVarrs1057516770
Maprs1057516770
PheGenIrs1057516770
Biobankrs1057516770
1000 genomesrs1057516770
hgdprs1057516770
ensemblrs1057516770
geneviewrs1057516770
scholarrs1057516770
googlers1057516770
pharmgkbrs1057516770
gwascentralrs1057516770
openSNPrs1057516770
23andMers1057516770
SNPshotrs1057516770
SNPdbers1057516770
MSV3drs1057516770
GWAS Ctlgrs1057516770
Max Magnitude0
ClinVar
Risk rs1057516770(C;C)
Alt rs1057516770(C;C)
Reference Rs1057516770(G;G)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene PCDH15 LOC105378311
CLNDBN Usher syndrome, type 1F
Reversed 1
HGVS NC_000010.10:g.56287571C>G
CLNSRC
CLNACC RCV000411565.1,