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rs113363047

From SNPedia

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Geno Mag Summary
(GTT;GTT) 0 common in clinvar
Make rs113363047(-;-)
Make rs113363047(-;GTT)
ReferenceGRCh38.p2 38.2/147
Chromosome10
Position53822123
GenePCDH15
is asnp
is mentioned by
dbSNPrs113363047
ebirs113363047
HLIrs113363047
Exacrs113363047
Varsomers113363047
Maprs113363047
PheGenIrs113363047
hapmaprs113363047
1000 genomesrs113363047
hgdprs113363047
ensemblrs113363047
gopubmedrs113363047
geneviewrs113363047
scholarrs113363047
googlers113363047
pharmgkbrs113363047
gwascentralrs113363047
openSNPrs113363047
23andMers113363047
23andMe allrs113363047
SNP Nexus

SNPshotrs113363047
SNPdbers113363047
MSV3drs113363047
GWAS Ctlgrs113363047
Max Magnitude0
ClinVar
Risk rs113363047(;)
Alt rs113363047(;)
Reference rs113363047(GTT;GTT)
Significance Pathogenic
Disease not specified Usher syndrome
Variation info
Gene PCDH15
CLNDBN not specified Usher syndrome, type 1
Reversed 0
HGVS NC_000010.10:g.55581883_55581885delGTT
CLNSRC HGMD
CLNACC RCV000039764.5, RCV000215699.1,