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rs483352837

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TGT;TGT) 0 common in clinvar
Make rs483352837(-;-)
Make rs483352837(-;TGT)
ReferenceGRCh38 38.1/142
Chromosome10
Position54023049
GenePCDH15
is asnp
is mentioned by
dbSNPrs483352837
dbSNP (classic)rs483352837
ClinGenrs483352837
ebirs483352837
HLIrs483352837
Exacrs483352837
Gnomadrs483352837
Varsomers483352837
LitVarrs483352837
Maprs483352837
PheGenIrs483352837
Biobankrs483352837
1000 genomesrs483352837
hgdprs483352837
ensemblrs483352837
geneviewrs483352837
scholarrs483352837
googlers483352837
pharmgkbrs483352837
gwascentralrs483352837
openSNPrs483352837
23andMers483352837
SNPshotrs483352837
SNPdbers483352837
MSV3drs483352837
GWAS Ctlgrs483352837
Max Magnitude0
ClinVar
Risk rs483352837(-;-)
Alt rs483352837(-;-)
Reference Rs483352837(TGT;TGT)
Significance Pathogenic
Disease Deafness not specified
Variation info
Gene PCDH15
CLNDBN Deafness, autosomal recessive 23 not specified
Reversed 1
HGVS NC_000010.10:g.55782809_55782811delACA
CLNSRC ClinVar
CLNACC RCV000114410.1, RCV000220485.1,