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rs137853002

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853002(A;A)
Make rs137853002(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position54317362
GenePCDH15
is asnp
is mentioned by
dbSNPrs137853002
ebirs137853002
HLIrs137853002
Exacrs137853002
Varsomers137853002
Maprs137853002
PheGenIrs137853002
hapmaprs137853002
1000 genomesrs137853002
hgdprs137853002
ensemblrs137853002
gopubmedrs137853002
geneviewrs137853002
scholarrs137853002
googlers137853002
pharmgkbrs137853002
gwascentralrs137853002
openSNPrs137853002
23andMers137853002
23andMe allrs137853002
SNP Nexus

SNPshotrs137853002
SNPdbers137853002
MSV3drs137853002
GWAS Ctlgrs137853002
Max Magnitude0
OMIM605514
Desc
Variant0006
Relatedalso
ClinVar
Risk rs137853002(A;A)
Alt rs137853002(A;A)
Reference rs137853002(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene PCDH15
CLNDBN Deafness, autosomal recessive 23
Reversed 1
HGVS NC_000010.10:g.56077122C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005221.2,