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rs137853003

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853003(C;G)
Make rs137853003(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position54369194
GenePCDH15
is asnp
is mentioned by
dbSNPrs137853003
ebirs137853003
HLIrs137853003
Exacrs137853003
Varsomers137853003
Maprs137853003
PheGenIrs137853003
hapmaprs137853003
1000 genomesrs137853003
hgdprs137853003
ensemblrs137853003
gopubmedrs137853003
geneviewrs137853003
scholarrs137853003
googlers137853003
pharmgkbrs137853003
gwascentralrs137853003
openSNPrs137853003
23andMers137853003
23andMe allrs137853003
SNP Nexus

SNPshotrs137853003
SNPdbers137853003
MSV3drs137853003
GWAS Ctlgrs137853003
Max Magnitude0
OMIM605514
Desc
Variant0007
Relatedalso
ClinVar
Risk rs137853003(A,G;A,G)
Alt rs137853003(A,G;A,G)
Reference rs137853003(C;C)
Significance Pathogenic
Disease Deafness Non-syndromic genetic deafness
Variation info
Gene PCDH15
CLNDBN Deafness, autosomal recessive 23 Non-syndromic genetic deafness
Reversed 1
HGVS NC_000010.10:g.56128954G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000005222.4, RCV000211736.1,