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rs199469706

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199469706(-;-)
Make rs199469706(-;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position54213948
GenePCDH15
is asnp
is mentioned by
dbSNPrs199469706
ebirs199469706
HLIrs199469706
Exacrs199469706
Varsomers199469706
Maprs199469706
PheGenIrs199469706
hapmaprs199469706
1000 genomesrs199469706
hgdprs199469706
ensemblrs199469706
gopubmedrs199469706
geneviewrs199469706
scholarrs199469706
googlers199469706
pharmgkbrs199469706
gwascentralrs199469706
openSNPrs199469706
23andMers199469706
23andMe allrs199469706
SNP Nexus

SNPshotrs199469706
SNPdbers199469706
MSV3drs199469706
GWAS Ctlgrs199469706
Max Magnitude0
ClinVar
Risk rs199469706(;)
Alt rs199469706(;)
Reference rs199469706(T;T)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene PCDH15
CLNDBN Usher syndrome, type 1F
Reversed 1
HGVS NC_000010.10:g.55973708delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000005217.2,


[PMID 11487575] Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F.